A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6947928



Internal ID9982625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:119554206..119587268hg38UCSC Ensembl
Outerchr1:120096829..120129891hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3833063
hg1933063
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716795
Supporting Variants
SamplesSSM001
Known GenesHSD3BP4
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)essv6947928
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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