A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12000103



Internal ID2497442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:101903255..102149455hg38UCSC Ensembl
Innerchr5:101903293..102149418hg38UCSC Ensembl
Outerchr5:101903218..102149493hg38UCSC Ensembl
chr5:101238959..101485159hg19UCSC Ensembl
Innerchr5:101238997..101485122hg19UCSC Ensembl
Outerchr5:101238922..101485197hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38246201
hg19246201
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606027
Supporting Variants
SamplesHG02219
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12000103
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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