A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6836478



Internal ID10236499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:37031753..37032133hg38UCSC Ensembl
Outerchr2:37258896..37259276hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38381
hg19381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719926, esv2719927
Supporting Variants
SamplesSSM083
Known GenesHEATR5B
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)essv6836478
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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