A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747714



Internal ID10328684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:80186310..81868892hg38UCSC Ensembl
Outerchr13:80760445..82443027hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg381682583
hg191682583
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6897782, essv6713164, essv6809532, essv6936348, essv6959575, essv6891437, essv6846094, essv6728504, essv6870859, essv6924523, essv6815615, essv6827913, essv6783748, essv6909062, essv6977567, essv6953421, essv6857497, essv6779630, essv6677996, essv6827912, essv6959572, essv6823819, essv6862607, essv6831494, essv6851496, essv6876812, essv6695755, essv6959574, essv6924524, essv6901021, essv6775870, essv6685237, essv6876813, essv6867391, essv6741244, essv6702642, essv6739809, essv6755719, essv6691768, essv6953422, essv6673450, essv6945149, essv6882471, essv6819927, essv6920398, essv6867353, essv6977568, essv6972707, essv6940536, essv6851499, essv6873818, essv6909061, essv6803631, essv6831493, essv6695753, essv6728503, essv6936349, essv6812352, essv6879610, essv6831495, essv6709656, essv6673451, essv6744156, essv6966104, essv6702641, essv6673449, essv6928075, essv6746984, essv6949272, essv6842630, essv6773975, essv6758350, essv6685238, essv6940607, essv6905070, essv6698887, essv6706374, essv6732313, essv6772251, essv6971022, essv6945148, essv6800404, essv6792034, essv6909060, essv6920397, essv6716984, essv6768648, essv6966103, essv6720867, essv6706378, essv6809533, essv6787947, essv6857498, essv6677997, essv6901032, essv6698889, essv6932053, essv6851497, essv6912789, essv6838794, essv6949271, essv6807464, essv6806519, essv6681767
SamplesSSM059, SSM036, SSM008, SSM083, SSM027, SSM024, SSM075, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM074, SSM042, SSM088, SSM041, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM029, SSM026, SSM089, SSM017, SSM019, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM014, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM040, SSM072, SSM020, SSM007, SSM015, SSM078, SSM053, SSM080, SSM037, SSM077, SSM076, SSM022, SSM091, SSM055, SSM070, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM012
Known GenesSPRY2
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)esv2747714
Frequency
Sample Size96
Observed Gain0
Observed Loss74
Observed Complex0
Frequencyn/a


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