A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6919892



Internal ID10030180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:114305668..114306232hg38UCSC Ensembl
Outerchr10:116065427..116065991hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg38565
hg19565
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2741162
Supporting Variants
SamplesSSM017
Known GenesAFAP1L2
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)essv6919892
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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