A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691544



Internal ID15063504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38707072..38712470hg38UCSC Ensembl
Innerchr19:38708072..38711470hg38UCSC Ensembl
Outerchr19:38706072..38713470hg38UCSC Ensembl
chr19:39197712..39203110hg19UCSC Ensembl
Innerchr19:39198712..39202110hg19UCSC Ensembl
Outerchr19:39196712..39204110hg19UCSC Ensembl
chr19:43889552..43894950hg18UCSC Ensembl
Innerchr19:43890552..43893950hg18UCSC Ensembl
Outerchr19:43888552..43895950hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg385399
hg195399
hg185399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3329584
Supporting Variants
SamplesNA19239
Known GenesACTN4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691544
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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