A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6910067



Internal ID9676779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:31580030..31580449hg38UCSC Ensembl
Outerchr1:32045631..32046050hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38420
hg19420
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746441
Supporting Variants
SamplesSSM015
Known GenesTINAGL1
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)essv6910067
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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