A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691646



Internal ID14717225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55526473..55528671hg38UCSC Ensembl
Innerchr19:55527473..55527671hg38UCSC Ensembl
Outerchr19:55525473..55529671hg38UCSC Ensembl
chr19:56037840..56040038hg19UCSC Ensembl
Innerchr19:56038840..56039038hg19UCSC Ensembl
Outerchr19:56036840..56041038hg19UCSC Ensembl
chr19:60729652..60731850hg18UCSC Ensembl
Innerchr19:60730652..60730850hg18UCSC Ensembl
Outerchr19:60728652..60732850hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg382199
hg192199
hg182199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3395916
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691646
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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