A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744008



Internal ID10324978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:13521666..13522533hg38UCSC Ensembl
Outerchr1:13848161..13849028hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38868
hg19868
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6703860, essv6718854, essv6937675, essv6933300, essv6707262, essv6972336, essv6682824, essv6776929, essv6738806
SamplesSSM041, SSM021, SSM029, SSM067, SSM040, SSM007, SSM022, SSM034, SSM052
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)esv2744008
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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