A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3351730



Internal ID14851994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161086938..161088736hg38UCSC Ensembl
Innerchr1:161087736..161087938hg38UCSC Ensembl
Outerchr1:161085938..161089736hg38UCSC Ensembl
chr1:161056728..161058526hg19UCSC Ensembl
Innerchr1:161057526..161057728hg19UCSC Ensembl
Outerchr1:161055728..161059526hg19UCSC Ensembl
chr1:159323352..159325150hg18UCSC Ensembl
Innerchr1:159324352..159324150hg18UCSC Ensembl
Outerchr1:159322352..159326150hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691996
SamplesNA19239
Known GenesPVRL4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3351730
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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