A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3450926



Internal ID14951187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226959728..226960826hg38UCSC Ensembl
Innerchr1:226959826..226960728hg38UCSC Ensembl
Outerchr1:226958728..226961826hg38UCSC Ensembl
chr1:227147429..227148527hg19UCSC Ensembl
Innerchr1:227147527..227148429hg19UCSC Ensembl
Outerchr1:227146429..227149527hg19UCSC Ensembl
chr1:225214052..225215150hg18UCSC Ensembl
Innerchr1:225215052..225214150hg18UCSC Ensembl
Outerchr1:225213052..225216150hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692133
SamplesNA19240
Known GenesADCK3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3450926
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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