A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723696



Internal ID10307332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44928734..44929148hg38UCSC Ensembl
Outerchr21:46348649..46349063hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38415
hg19415
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6721922, essv6853130, essv6828930, essv6902458
SamplesSSM044, SSM086, SSM080, SSM012
Known GenesITGB2, ITGB2-AS1
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)esv2723696
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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