A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3371283



Internal ID14871542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2524154..2525052hg38UCSC Ensembl
Innerchr19:2524153..2525053hg38UCSC Ensembl
Outerchr19:2523154..2526052hg38UCSC Ensembl
chr19:2524152..2525050hg19UCSC Ensembl
Innerchr19:2524151..2525051hg19UCSC Ensembl
Outerchr19:2523152..2526050hg19UCSC Ensembl
chr19:2475152..2476050hg18UCSC Ensembl
Innerchr19:2476051..2475151hg18UCSC Ensembl
Outerchr19:2474152..2477050hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691446
SamplesNA19240
Known GenesGNG7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3371283
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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