A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12030121



Internal ID6591179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115633704..115634178hg38UCSC Ensembl
Innerchr5:115633718..115634164hg38UCSC Ensembl
Outerchr5:115633690..115634192hg38UCSC Ensembl
chr5:114969401..114969875hg19UCSC Ensembl
Innerchr5:114969415..114969861hg19UCSC Ensembl
Outerchr5:114969387..114969889hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg38475
hg19475
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606372
Supporting Variants
SamplesNA20768
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12030121
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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