A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723407



Internal ID9957707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:37717103..37717954hg38UCSC Ensembl
Outerchr21:39089406..39090257hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38852
hg19852
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6679056, essv6925594, essv6954585, essv6703751, essv6828908, essv6793180, essv6801533, essv6666806, essv6961355
SamplesSSM025, SSM072, SSM032, SSM039, SSM029, SSM026, SSM018, SSM070, SSM080
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)esv2723407
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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