A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3354610



Internal ID15201591
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 Flag
Merged StatusM
Merged Variantsdgv2033e59
Supporting Variantsessv8691655
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3354610
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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