A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737158



Internal ID9971494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:72513444..72514181hg38UCSC Ensembl
Outerchr8:73425679..73426416hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg38738
hg19738
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6904353, essv6935428, essv6893676, essv6927401, essv6766565, essv6733776, essv6681026, essv6964769, essv6731513, essv6876215, essv6931164, essv6743592
SamplesSSM008, SSM027, SSM013, SSM092, SSM021, SSM047, SSM019, SSM033, SSM020, SSM007, SSM053, SSM012
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)esv2737158
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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