A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6793180



Internal ID9850363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:37717221..37717586hg38UCSC Ensembl
Outerchr21:39089524..39089889hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38366
hg19366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723408, esv2723407
Supporting Variants
SamplesSSM070
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)essv6793180
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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