A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6726914



Internal ID10137705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:63408632..63408925hg38UCSC Ensembl
Outerchr5:62704459..62704752hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38294
hg19294
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730266, esv2730261
Supporting Variants
SamplesSSM046
Known Genes
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)essv6726914
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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