A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747161



Internal ID9981445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:25031743..26209531hg38UCSC Ensembl
Outerchr13:25605881..26783668hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg381177789
hg191177788
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6812308, essv6668283, essv6966007, essv6900720, essv6765847, essv6673352, essv6949209, essv6920341, essv6783684, essv6685194, essv6732258, essv6768605, essv6977462, essv6823761, essv6891389, essv6885168, essv6815570, essv6688392, essv6945087, essv6940480, essv6912737, essv6842566, essv6838746, essv6959479, essv6851407, essv6924468, essv6806472, essv6787881, essv6685195, essv6831434, essv6728457, essv6827856, essv6876773, essv6713113, essv6862541, essv6691719, essv6773420, essv6812309, essv6940481, essv6831435, essv6873776, essv6791978, essv6772194, essv6812307, essv6857412, essv6819851, essv6894770, essv6879576, essv6953365, essv6931981, essv6706328, essv6866898, essv6815571, essv6949208, essv6905021, essv6779581, essv6959482, essv6882419, essv6668284, essv6800352, essv6936284, essv6755668, essv6724625, essv6867319, essv6867318, essv6823760, essv6807043, essv6959481, essv6851406, essv6716928, essv6905022, essv6835798, essv6749778, essv6741184, essv6823762, essv6866887, essv6783681, essv6846047, essv6791976, essv6857413, essv6851405, essv6972317, essv6842565, essv6809479, essv6977460, essv6695697, essv6673353, essv6787882, essv6677950, essv6783683, essv6709610, essv6720809, essv6977459, essv6834996, essv6768604, essv6900488, essv6966004, essv6772195, essv6873774, essv6673355, essv6761072, essv6912738, essv6827855, essv6970955, essv6966005, essv6897739, essv6888089, essv6800353, essv6783682, essv6741185, essv6908990, essv6888087, essv6851404, essv6739342, essv6959480, essv6857414, essv6870810, essv6728456, essv6702588, essv6702586
SamplesSSM100, SSM036, SSM008, SSM083, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM097, SSM039, SSM013, SSM009, SSM093, SSM074, SSM042, SSM088, SSM041, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM026, SSM089, SSM017, SSM035, SSM094, SSM032, SSM031, SSM067, SSM044, SSM014, SSM086, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM056, SSM030, SSM063, SSM012
Known GenesAMER2, ATP8A2, MTMR6, NUPL1, PABPC3, SHISA2
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)esv2747161
Frequency
Sample Size96
Observed Gain0
Observed Loss77
Observed Complex0
Frequencyn/a


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