A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6929053



Internal ID10040910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:9592482..9592840hg38UCSC Ensembl
Outerchr1:9652540..9652898hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38359
hg19359
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2743619
Supporting Variants
SamplesSSM020
Known GenesTMEM201
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)essv6929053
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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