A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723674



Internal ID9957974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44574219..44600917hg38UCSC Ensembl
Outerchr21:45994096..46020832hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3826699
hg1926737
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6766495, essv6718487
SamplesSSM006, SSM063
Known GenesKRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, 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)esv2723674
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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