A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6927715



Internal ID10037027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:120467168..120469400hg38UCSC Ensembl
Outerchr10:122226680..122228912hg19UCSC Ensembl
Cytoband10q26.12
Allele length
AssemblyAllele length
hg382233
hg192233
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2741940
Supporting Variants
SamplesSSM019
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)essv6927715
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer