A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6692979



Internal ID10107074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:232639816..232640098hg38UCSC Ensembl
Outerchr1:232775562..232775844hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38283
hg19283
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724994
Supporting Variants
SamplesSSM037
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)essv6692979
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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