A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13972060



Internal ID698401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:128890271..128895522hg38UCSC Ensembl
Innerchr10:128890292..128895501hg38UCSC Ensembl
Outerchr10:128890250..128895543hg38UCSC Ensembl
chr10:130688535..130693786hg19UCSC Ensembl
Innerchr10:130688556..130693765hg19UCSC Ensembl
Outerchr10:130688514..130693807hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg385252
hg195252
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3624912
Supporting Variants
SamplesHG00328
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13972060
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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