A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746835



Internal ID10327805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:131330849..131631225hg38UCSC Ensembl
Outerchr12:131815394..132115770hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38300377
hg19300377
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6857360, essv6744103, essv6724590, essv6949187, essv6940444, essv6744104, essv6846026, essv6749759, essv6953332, essv6677919, essv6809455, essv6800324, essv6755655, essv6936252, essv6728429, essv6891363, essv6953331, essv6959430, essv6945062, essv6783659, essv6965952, essv6724591, essv6681672, essv6970921, essv6851360, essv6945061, essv6695659, essv6945064, essv6920297, essv6912702, essv6916221, essv6953333, essv6800319, essv6972095, essv6894741, essv6775799, essv6838708, essv6773198, essv6977391, essv6796132, essv6741161, essv6857361, essv6695661, essv6779556, essv6838707, essv6806456, essv6959433, essv6706304, essv6953329, essv6709592, essv6949190, essv6970919, essv6838711, essv6862506, essv6772144, essv6752646, essv6673309, essv6900243, essv6815555, essv6965949, essv6772147, essv6970916, essv6936256, essv6713087, essv6842533, essv6691689, essv6809456, essv6702556, essv6857365, essv6851361, essv6772151, essv6806743, essv6834966, essv6706305, essv6695660, essv6965947, essv6867288, essv6772148, essv6732229, essv6702557, essv6791948, essv6783657, essv6739242, essv6763467, essv6691692, essv6673311, essv6894739, essv6949184, essv6713089, essv6787849, essv6673312, essv6931948, essv6912704, essv6741162, essv6940446, essv6912703, essv6831394, essv6806455, essv6928006, essv6857363, essv6758294, essv6728426, essv6862505, essv6772145, essv6791946, essv6945059, essv6838713, essv6815552, essv6681675, essv6928009, essv6924446, essv6924445, essv6838712, essv6698824, essv6691691, essv6920299, essv6691693, essv6916220, essv6949189, essv6695658, essv6846024, essv6965953, essv6706306, essv6928008, essv6842532, essv6940443, essv6897722, essv6977389, essv6713084, essv6965948, essv6920298, essv6939895, essv6681673, essv6772152, essv6687955, essv6787848, essv6698825, essv6796128, essv6904998, essv6796130, essv6775800, essv6959434, essv6924447, essv6695657, essv6732230, essv6732228, essv6936249, essv6677918, essv6940442, essv6772146, essv6752644, essv6977390, essv6900232, essv6796129, essv6851363, essv6791945, essv6720783, essv6945060, essv6949188, essv6959432, essv6768577, essv6970922, essv6931950, essv6965950, essv6867286, essv6823728, essv6873755, essv6806710, essv6920301, essv6720782, essv6673313, essv6806721, essv6977394, essv6940445, essv6800323, essv6838714, essv6936254, essv6803575, essv6894740, essv6857362, essv6965954, essv6920300, essv6716897, essv6879559, essv6752647, essv6709593, essv6668263, essv6741163, essv6936255, essv6713086, essv6970920, essv6920303, essv6791947, essv6885146, essv6842534, essv6885147, essv6835587, essv6909285, essv6823726, essv6746925, essv6931949, essv6928010, essv6728598, essv6936250, essv6668262, essv6953330, essv6827818, essv6685173, essv6846025, essv6702555, essv6970918, essv6949183, essv6842530, essv6800320, essv6773176, essv6857358, essv6819817, essv6916219, essv6842535, essv6806732, essv6809457, essv6857359, essv6800322, essv6916217, essv6815553, essv6904997, essv6775798, essv6772150, essv6866599, essv6900254, essv6959435, essv6668264, essv6831395, essv6904995, essv6949182, essv6713085, essv6681674, essv6977392, essv6936253, essv6783658, essv6812294, essv6744102, essv6959431, essv6711721, essv6931952, essv6928011, essv6728428, essv6977393, essv6709591, essv6728427, essv6851362, essv6688368, essv6668267, essv6773187, essv6972106, essv6728709, essv6949186, essv6866610, essv6772149, essv6920302, essv6691690, essv6823727, essv6752645
SamplesSSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM084, SSM021, SSM047, SSM018, SSM069, SSM029, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM056, SSM030, SSM012
Known GenesLOC338797
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2746835
Frequency
Sample Size96
Observed Gain0
Observed Loss86
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer