A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11875543



Internal ID3247443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40334191..40351976hg38UCSC Ensembl
Innerchr5:40334201..40351966hg38UCSC Ensembl
Outerchr5:40334181..40351986hg38UCSC Ensembl
chr5:40334293..40352078hg19UCSC Ensembl
Innerchr5:40334303..40352068hg19UCSC Ensembl
Outerchr5:40334283..40352088hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3817786
hg1917786
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604814
Supporting Variants
SamplesHG02861
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11875543
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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