A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12074920



Internal ID5213478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137785966..137795192hg38UCSC Ensembl
Innerchr5:137785966..137795192hg38UCSC Ensembl
Outerchr5:137785466..137795692hg38UCSC Ensembl
chr5:137121655..137130881hg19UCSC Ensembl
Innerchr5:137121655..137130881hg19UCSC Ensembl
Outerchr5:137121155..137131381hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg389227
hg199227
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606908
Supporting Variants
SamplesNA18620
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12074920
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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