A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6682982



Internal ID10099876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:225574575..225574901hg38UCSC Ensembl
Outerchr1:225762277..225762603hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723905, esv2723918
Supporting Variants
SamplesSSM034
Known GenesENAH
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)essv6682982
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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