A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736681



Internal ID10320317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:17127000..17127870hg38UCSC Ensembl
Outerchr8:16984509..16985379hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38871
hg19871
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6935379, essv6766131, essv6716133, essv6746352, essv6775118, essv6876183, essv6760492, essv6698317, essv6966117, essv6861569, essv6687770, essv6845445
SamplesSSM008, SSM038, SSM088, SSM092, SSM021, SSM061, SSM035, SSM066, SSM085, SSM055, SSM004, SSM043
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)esv2736681
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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