A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6761283



Internal ID9821750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:78791722..78792571hg38UCSC Ensembl
Outerchr15:79084064..79084913hg19UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg38850
hg19850
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749914, esv2749915
Supporting Variants
SamplesSSM061
Known GenesADAMTS7
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)essv6761283
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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