A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750164



Internal ID10331134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:100887305..100887477hg38UCSC Ensembl
Outerchr15:101427510..101427682hg19UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38173
hg19173
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6717249, essv6724918
SamplesSSM045, SSM043
Known GenesALDH1A3
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)esv2750164
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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