A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12064328



Internal ID3851886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132506435..132509931hg38UCSC Ensembl
Innerchr5:132506459..132509908hg38UCSC Ensembl
Outerchr5:132506412..132509955hg38UCSC Ensembl
chr5:131842127..131845623hg19UCSC Ensembl
Innerchr5:131842151..131845600hg19UCSC Ensembl
Outerchr5:131842104..131845647hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg383497
hg193497
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606806
Supporting Variants
SamplesHG03484
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12064328
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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