A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721576



Internal ID10305212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:228619507..228620222hg38UCSC Ensembl
Outerchr2:229484223..229484938hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38716
hg19716
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6973224, essv6759400, essv6773874, essv6748128, essv6955549, essv6762118, essv6847486
SamplesSSM061, SSM029, SSM062, SSM026, SSM001, SSM066, SSM056
Known Genes
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)esv2721576
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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