A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6781352



Internal ID10189829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:196749916..196750311hg38UCSC Ensembl
Outerchr2:197614640..197615035hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38396
hg19396
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721336
Supporting Variants
SamplesSSM068
Known Genes
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)essv6781352
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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