A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6846282



Internal ID10245136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:85513783..85515958hg38UCSC Ensembl
Outerchr15:86057014..86059189hg19UCSC Ensembl
Cytoband15q25.3
Allele length
AssemblyAllele length
hg382176
hg192176
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749971
Supporting Variants
SamplesSSM085
Known GenesAKAP13
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)essv6846282
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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