A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723677



Internal ID9957977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44696851..44697184hg38UCSC Ensembl
Outerchr21:46116766..46117099hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6725759, essv6846916, essv6954619
SamplesSSM045, SSM085, SSM025
Known GenesKRTAP10-12, TSPEAR
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)esv2723677
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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