A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723663



Internal ID9957963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44465823..44466138hg38UCSC Ensembl
Outerchr21:45885706..45886021hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6950457, essv6836094, essv6839885, essv6895786, essv6773365, essv6710523
SamplesSSM083, SSM024, SSM065, SSM041, SSM082, SSM098
Known Genes
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)esv2723663
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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