A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6812540



Internal ID10212891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:85513785..85515963hg38UCSC Ensembl
Outerchr15:86057016..86059194hg19UCSC Ensembl
Cytoband15q25.3
Allele length
AssemblyAllele length
hg382179
hg192179
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749971
Supporting Variants
SamplesSSM076
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)essv6812540
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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