A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736777



Internal ID9971109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:25469451..25470060hg38UCSC Ensembl
Outerchr8:25326967..25327576hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38610
hg19610
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6933708, essv6964705, essv6958099, essv6975922, essv6766231, essv6746362, essv6952565, essv6970070, essv6752082, essv6667895, essv6935389, essv6893332, essv6856163
SamplesSSM008, SSM027, SSM087, SSM057, SSM028, SSM021, SSM029, SSM026, SSM003, SSM055, SSM025, SSM030, SSM012
Known GenesCDCA2
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)esv2736777
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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