A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736766



Internal ID9971098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:24464692..24464983hg38UCSC Ensembl
Outerchr8:24322205..24322496hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38292
hg19292
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6893299, essv6682487, essv6915597, essv6757813, essv6799520, essv6834338, essv6931131, essv6933696, essv6970068, essv6897181, essv6919505, essv6727715, essv6944165, essv6775128, essv6749204, essv6705633, essv6805901, essv6923650, essv6762985, essv6701739, essv6795326, essv6870257, essv6814874, essv6803025, essv6743575, essv6760501, essv6876191, essv6818910, essv6746361, essv6935386, essv6698326, essv6850137, essv6765393, essv6731480, essv6733521, essv6737421, essv6782857, essv6927372
SamplesSSM007, SSM092, SSM053, SSM082, SSM086, SSM055, SSM061, SSM099, SSM040, SSM078, SSM090, SSM072, SSM020, SSM071, SSM016, SSM001, SSM039, SSM050, SSM077, SSM062, SSM012, SSM056, SSM017, SSM066, SSM028, SSM003, SSM047, SSM073, SSM021, SSM063, SSM038, SSM046, SSM019, SSM023, SSM068, SSM074, SSM018, SSM059
Known GenesADAM7
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)esv2736766
Frequency
Sample Size96
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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