A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6906974



Internal ID9985568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:120467132..120469437hg38UCSC Ensembl
Outerchr10:122226644..122228949hg19UCSC Ensembl
Cytoband10q26.12
Allele length
AssemblyAllele length
hg382306
hg192306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2741940
Supporting Variants
SamplesSSM002
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)essv6906974
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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