A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6906563



Internal ID10020631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:191054044..191054194hg38UCSC Ensembl
Outerchr2:191918770..191918920hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721279, esv2721278
Supporting Variants
SamplesSSM014
Known GenesSTAT4
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)essv6906563
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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