A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7837321



Internal ID14734897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:56454681..56454682hg38UCSC Ensembl
Innerchr19:56454655..56454708hg38UCSC Ensembl
Outerchr19:56454654..56454709hg38UCSC Ensembl
chr19:56966050..56966051hg19UCSC Ensembl
Innerchr19:56966024..56966077hg19UCSC Ensembl
Outerchr19:56966023..56966078hg19UCSC Ensembl
chr19:61657862..61657863hg18UCSC Ensembl
Innerchr19:61657889..61657836hg18UCSC Ensembl
Outerchr19:61657835..61657890hg18UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg3891
hg1991
hg1891
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3309659
Supporting Variants
SamplesNA19240
Known GenesZNF667
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7837321
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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