A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691685



Internal ID15029988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:7823366..7823664hg38UCSC Ensembl
Innerchr19:7823365..7823665hg38UCSC Ensembl
Outerchr19:7822366..7824664hg38UCSC Ensembl
chr19:7888252..7888550hg19UCSC Ensembl
Innerchr19:7888251..7888551hg19UCSC Ensembl
Outerchr19:7887252..7889550hg19UCSC Ensembl
chr19:7794252..7794550hg18UCSC Ensembl
Innerchr19:7794551..7794251hg18UCSC Ensembl
Outerchr19:7793252..7795550hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38299
hg19299
hg18299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3327943
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691685
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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