A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6667390



Internal ID10084460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1061076..1061496hg38UCSC Ensembl
Outerchr5:1061191..1061611hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38421
hg19421
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2729398
Supporting Variants
SamplesSSM030
Known GenesSLC12A7
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)essv6667390
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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