A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723410



Internal ID10307046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:37860710..37861363hg38UCSC Ensembl
Outerchr21:39233012..39233665hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38654
hg19654
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6682752, essv6780747, essv6783854, essv6836069, essv6933197, essv6853093
SamplesSSM008, SSM067, SSM086, SSM033, SSM082, SSM020
Known GenesKCNJ6
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)esv2723410
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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