A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723408



Internal ID9957708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:37717207..37717588hg38UCSC Ensembl
Outerchr21:39089510..39089891hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38382
hg19382
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6828908, essv6679056, essv6801533, essv6793180, essv6954585, essv6961355, essv6703751
SamplesSSM039, SSM026, SSM032, SSM072, SSM080, SSM070, SSM025
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)esv2723408
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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