A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6735022



Internal ID10145469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:120467168..120469394hg38UCSC Ensembl
Outerchr10:122226680..122228906hg19UCSC Ensembl
Cytoband10q26.12
Allele length
AssemblyAllele length
hg382227
hg192227
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2741940
Supporting Variants
SamplesSSM049
Known GenesPPAPDC1A
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)essv6735022
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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