A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723400



Internal ID9957700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:37654740..37655510hg38UCSC Ensembl
Outerchr21:39027042..39027812hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38771
hg19771
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6666804, essv6950435
SamplesSSM024, SSM029
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)esv2723400
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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