A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749739



Internal ID9984023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:57989905..57990024hg38UCSC Ensembl
Outerchr15:58282103..58282222hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6851856, essv6867677, essv6966448, essv6862885
SamplesSSM027, SSM086, SSM088, SSM089
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)esv2749739
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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