A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12068559



Internal ID5087722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:135966634..135999335hg38UCSC Ensembl
Innerchr5:135966680..135999290hg38UCSC Ensembl
Outerchr5:135966589..135999381hg38UCSC Ensembl
chr5:135302323..135335024hg19UCSC Ensembl
Innerchr5:135302369..135334979hg19UCSC Ensembl
Outerchr5:135302278..135335070hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3832702
hg1932702
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606872
Supporting Variants
SamplesNA18547
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12068559
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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