A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732506



Internal ID10316142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:8562320..8563066hg38UCSC Ensembl
Outerchr10:8604283..8605029hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg38747
hg19747
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6894357, essv6746564, essv6740765, essv6819266, essv6735743, essv6912258, essv6944525, essv6737638, essv6716428, essv6768821, essv6743769, essv6897384, essv6768239, essv6850626, essv6958669
SamplesSSM008, SSM064, SSM050, SSM023, SSM026, SSM086, SSM007, SSM015, SSM078, SSM053, SSM055, SSM099, SSM043, SSM052, SSM098
Known Genes
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)esv2732506
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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