A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6816876



Internal ID10006673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:33010782..33012798hg38UCSC Ensembl
Outerchr1:33476383..33478399hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg382017
hg192017
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746574
Supporting Variants
SamplesSSM010
Known GenesAK2
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)essv6816876
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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