A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691655



Internal ID13708998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:58591573..58594871hg38UCSC Ensembl
Innerchr19:58592573..58593871hg38UCSC Ensembl
Outerchr19:58590573..58595871hg38UCSC Ensembl
chr19:59102940..59106238hg19UCSC Ensembl
Innerchr19:59103940..59105238hg19UCSC Ensembl
Outerchr19:59101940..59107238hg19UCSC Ensembl
chr19:63794752..63798050hg18UCSC Ensembl
Innerchr19:63795752..63797050hg18UCSC Ensembl
Outerchr19:63793752..63799050hg18UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg383299
hg193299
hg183299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3354610
Supporting Variants
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691655
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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