A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691645



Internal ID14760577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55526473..55528571hg38UCSC Ensembl
Innerchr19:55527473..55527571hg38UCSC Ensembl
Outerchr19:55525473..55529571hg38UCSC Ensembl
chr19:56037840..56039938hg19UCSC Ensembl
Innerchr19:56038840..56038938hg19UCSC Ensembl
Outerchr19:56036840..56040938hg19UCSC Ensembl
chr19:60729652..60731750hg18UCSC Ensembl
Innerchr19:60730652..60730750hg18UCSC Ensembl
Outerchr19:60728652..60732750hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3381723
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691645
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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