A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749601



Internal ID10330571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:40553753..40554126hg38UCSC Ensembl
Outerchr15:40845952..40846325hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg38374
hg19374
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6796425, essv6945400
SamplesSSM071, SSM023
Known GenesC15orf57
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)esv2749601
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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