A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6785612



Internal ID10190532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:70365983..70366286hg38UCSC Ensembl
Outerchr3:70415134..70415437hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725399
Supporting Variants
SamplesSSM069
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)essv6785612
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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