A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15617993



Internal ID5812994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:13998297..14002832hg38UCSC Ensembl
Innerchr17:13998297..14002832hg38UCSC Ensembl
Outerchr17:13997797..14003332hg38UCSC Ensembl
chr17:13901614..13906149hg19UCSC Ensembl
Innerchr17:13901614..13906149hg19UCSC Ensembl
Outerchr17:13901114..13906649hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg384536
hg194536
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640009
Supporting Variants
SamplesNA19189
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15617993
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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