A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3424509



Internal ID14924780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:56454682..56454701hg38UCSC Ensembl
Innerchr19:56454678..56454705hg38UCSC Ensembl
Outerchr19:56454659..56454724hg38UCSC Ensembl
chr19:56966051..56966070hg19UCSC Ensembl
Innerchr19:56966047..56966074hg19UCSC Ensembl
Outerchr19:56966028..56966093hg19UCSC Ensembl
chr19:61657863..61657882hg18UCSC Ensembl
Innerchr19:61657886..61657859hg18UCSC Ensembl
Outerchr19:61657840..61657905hg18UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9678136, essv9678125, essv9678147, essv9678102, essv9678158, essv9678091, essv9678114
SamplesNA11881, NA12249, NA11918, NA11840, NA12873, NA12234, NA12812
Known GenesZNF667
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3424509
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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