A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6924119



Internal ID9686785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:132187162..132187545hg38UCSC Ensembl
Outerchr10:134000666..134001049hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38384
hg19384
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2743628
Supporting Variants
SamplesSSM018
Known GenesDPYSL4
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)essv6924119
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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