A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652018



Internal ID14754511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:37241809..37242408hg38UCSC Ensembl
Innerchr19:37241809..37242408hg38UCSC Ensembl
Outerchr19:37241804..37242677hg38UCSC Ensembl
chr19:37732711..37733310hg19UCSC Ensembl
Innerchr19:37732711..37733310hg19UCSC Ensembl
Outerchr19:37732706..37733579hg19UCSC Ensembl
chr19:42424551..42425150hg18UCSC Ensembl
Innerchr19:42424551..42425150hg18UCSC Ensembl
Outerchr19:42424546..42425419hg18UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg38600
hg19600
hg18600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3408256
Supporting Variants
SamplesNA19240
Known GenesZNF383
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652018
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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