A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6942459



Internal ID10050979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:70211174..70211349hg38UCSC Ensembl
Outerchr3:70260325..70260500hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725398
Supporting Variants
SamplesSSM023
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)essv6942459
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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