A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723667



Internal ID9957967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44502839..44503097hg38UCSC Ensembl
Outerchr21:45922722..45922980hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38259
hg19259
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6868664, essv6902456, essv6863862, essv6675125
SamplesSSM088, SSM089, SSM031, SSM012
Known GenesTSPEAR
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)esv2723667
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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