A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15986883



Internal ID5988699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:6967734..6971821hg38UCSC Ensembl
Innerchr19:6967760..6971795hg38UCSC Ensembl
Outerchr19:6967708..6971847hg38UCSC Ensembl
chr19:6967745..6971832hg19UCSC Ensembl
Innerchr19:6967771..6971806hg19UCSC Ensembl
Outerchr19:6967719..6971858hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg384088
hg194088
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643574
Supporting Variants
SamplesHG03598
Known GenesEMR4P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15986883
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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