A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749573



Internal ID9983857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:36988025..36990160hg38UCSC Ensembl
Outerchr15:37280226..37282361hg19UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg382136
hg192136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6713340
SamplesSSM042
Known GenesMEIS2
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)esv2749573
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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