A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6847489



Internal ID10246221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:38325511..38325880hg38UCSC Ensembl
Outerchr2:38552653..38553022hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38370
hg19370
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719945
Supporting Variants
SamplesSSM086
Known GenesATL2
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)essv6847489
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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