A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691572



Internal ID14716901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46605755..46608653hg38UCSC Ensembl
Innerchr19:46606755..46607653hg38UCSC Ensembl
Outerchr19:46604755..46609653hg38UCSC Ensembl
chr19:47109012..47111910hg19UCSC Ensembl
Innerchr19:47110012..47110910hg19UCSC Ensembl
Outerchr19:47108012..47112910hg19UCSC Ensembl
chr19:51800852..51803750hg18UCSC Ensembl
Innerchr19:51801852..51802750hg18UCSC Ensembl
Outerchr19:51799852..51804750hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg382899
hg192899
hg182899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3352253
Supporting Variants
SamplesNA19239
Known GenesCALM3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691572
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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