A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6783776



Internal ID10002604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:33876061..33876542hg38UCSC Ensembl
Outerchr21:35248365..35248846hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38482
hg19482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723358
Supporting Variants
SamplesSSM008
Known GenesITSN1
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)essv6783776
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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