A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749799



Internal ID10330769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:67112190..67113300hg38UCSC Ensembl
Outerchr15:67404528..67405638hg19UCSC Ensembl
Cytoband15q22.33
Allele length
AssemblyAllele length
hg381111
hg191111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6758515, essv6763648, essv6735452, essv6761275
SamplesSSM059, SSM061, SSM062, SSM049
Known GenesSMAD3
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)esv2749799
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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