A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6764366



Internal ID10172675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:36728494..36728897hg38UCSC Ensembl
Outerchr2:36955637..36956040hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38404
hg19404
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719924
Supporting Variants
SamplesSSM063
Known GenesVIT
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)essv6764366
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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