A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720662



Internal ID10304298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:190628890..190629041hg38UCSC Ensembl
Outerchr1:190598020..190598171hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv41e201
Supporting Variantsessv6836317, essv6853447, essv6886089
SamplesSSM083, SSM087, SSM096
Known GenesLOC440704
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)esv2720662
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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