A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736787



Internal ID10320423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:26077881..26078569hg38UCSC Ensembl
Outerchr8:25935397..25936085hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38689
hg19689
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6771432, essv6873229, essv6927375, essv6814879, essv6795329, essv6841830, essv6694849, essv6746363, essv6966250, essv6944168, essv6861582, essv6827033, essv6893343, essv6712427, essv6766242, essv6680993, essv6727717, essv6919510
SamplesSSM008, SSM071, SSM046, SSM065, SSM042, SSM088, SSM023, SSM084, SSM017, SSM019, SSM033, SSM080, SSM037, SSM077, SSM091, SSM055, SSM004, 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)esv2736787
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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