A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746241



Internal ID10327211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:30863121..30863397hg38UCSC Ensembl
Outerchr1:31335968..31336244hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6747796, essv6761870
SamplesSSM062, 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)esv2746241
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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