A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15997470



Internal ID5999286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:14600841..14605345hg38UCSC Ensembl
Innerchr19:14600842..14605344hg38UCSC Ensembl
Outerchr19:14600840..14605346hg38UCSC Ensembl
chr19:14711653..14716157hg19UCSC Ensembl
Innerchr19:14711654..14716156hg19UCSC Ensembl
Outerchr19:14711652..14716158hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg384505
hg194505
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643748
Supporting Variants
SamplesHG04076
Known GenesCLEC17A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15997470
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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