A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6686394



Internal ID10103138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:37031929..37032065hg38UCSC Ensembl
Outerchr2:37259072..37259208hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719926, esv2719927, esv2719930
Supporting Variants
SamplesSSM035
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)essv6686394
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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