A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723676



Internal ID9957976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44666770..44681880hg38UCSC Ensembl
Outerchr21:46086687..46101795hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3815111
hg1915109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6921648
SamplesSSM017
Known GenesKRTAP12-1, KRTAP12-2, 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)esv2723676
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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