A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16002947



Internal ID6555804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17042978..17047046hg38UCSC Ensembl
Innerchr19:17043013..17047012hg38UCSC Ensembl
Outerchr19:17042944..17047081hg38UCSC Ensembl
chr19:17153788..17157856hg19UCSC Ensembl
Innerchr19:17153823..17157822hg19UCSC Ensembl
Outerchr19:17153754..17157891hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg384069
hg194069
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643809
Supporting Variants
SamplesNA20754
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16002947
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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