A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9764739



Internal ID18738985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:61997849..61998099hg38UCSC Ensembl
Outerchr5:61997772..61998164hg38UCSC Ensembl
Innerchr5:61293676..61293926hg19UCSC Ensembl
Outerchr5:61293599..61293991hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38393
hg19393
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3565992
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9764739
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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