A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3566598



Internal ID18767674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:126161247..126162977hg38UCSC Ensembl
Outerchr5:126160914..126163247hg38UCSC Ensembl
Innerchr5:125496940..125498670hg19UCSC Ensembl
Outerchr5:125496607..125498940hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg382334
hg192334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9765345
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3566598
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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