A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15595158



Internal ID2158088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4610538..4611836hg38UCSC Ensembl
Innerchr17:4610588..4611786hg38UCSC Ensembl
Outerchr17:4610432..4611942hg38UCSC Ensembl
chr17:4513833..4515131hg19UCSC Ensembl
Innerchr17:4513883..4515081hg19UCSC Ensembl
Outerchr17:4513727..4515237hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg381299
hg191299
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639791
Supporting Variants
SamplesHG01951
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15595158
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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