A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12075989



Internal ID5558419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139547653..139553917hg38UCSC Ensembl
Innerchr5:139547803..139553767hg38UCSC Ensembl
Outerchr5:139547503..139554067hg38UCSC Ensembl
chr5:138927238..138933502hg19UCSC Ensembl
Innerchr5:138927388..138933352hg19UCSC Ensembl
Outerchr5:138927088..138933652hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg386265
hg196265
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606940
Supporting Variants
SamplesNA19009
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12075989
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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