A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736661



Internal ID10320297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:16139534..16139976hg38UCSC Ensembl
Outerchr8:15997043..15997485hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38443
hg19443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6680980, essv6911934, essv6795314, essv6958069, essv6975898, essv6672039
SamplesSSM071, SSM029, SSM026, SSM031, SSM033, SSM015
Known GenesMSR1
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)esv2736661
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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