A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723170



Internal ID10306806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:13957259..13957969hg38UCSC Ensembl
Outerchr21:15329580..15330290hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38711
hg19711
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6871634, essv6718044, essv6761785
SamplesSSM090, SSM061, SSM043
Known GenesANKRD20A11P
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)esv2723170
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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