A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12074902



Internal ID1423870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137589246..137592752hg38UCSC Ensembl
Innerchr5:137589254..137592744hg38UCSC Ensembl
Outerchr5:137589238..137592760hg38UCSC Ensembl
chr5:136924935..136928441hg19UCSC Ensembl
Innerchr5:136924943..136928433hg19UCSC Ensembl
Outerchr5:136924927..136928449hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg383507
hg193507
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606905
Supporting Variants
SamplesHG01303
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12074902
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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