A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691405



Internal ID15062804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:13934239..13935537hg38UCSC Ensembl
Innerchr19:13934537..13935239hg38UCSC Ensembl
Outerchr19:13933239..13936537hg38UCSC Ensembl
chr19:14045052..14046350hg19UCSC Ensembl
Innerchr19:14045350..14046052hg19UCSC Ensembl
Outerchr19:14044052..14047350hg19UCSC Ensembl
chr19:13906052..13907350hg18UCSC Ensembl
Innerchr19:13907052..13906350hg18UCSC Ensembl
Outerchr19:13905052..13908350hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3336175
Supporting Variants
SamplesNA19239
Known GenesPODNL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691405
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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