A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6768813



Internal ID10173905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:57989793..57990259hg38UCSC Ensembl
Outerchr15:58281991..58282457hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg38467
hg19467
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749738
Supporting Variants
SamplesSSM064
Known GenesALDH1A2
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)essv6768813
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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