A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6683182



Internal ID10100563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:168538967..168539258hg38UCSC Ensembl
Outerchr2:169395477..169395768hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38292
hg19292
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721103
Supporting Variants
SamplesSSM034
Known GenesCERS6
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)essv6683182
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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