A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16068717



Internal ID6070533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46134382..46240984hg38UCSC Ensembl
Innerchr19:46134532..46240834hg38UCSC Ensembl
Outerchr19:46134232..46241134hg38UCSC Ensembl
chr19:46637639..46744241hg19UCSC Ensembl
Innerchr19:46637789..46744091hg19UCSC Ensembl
Outerchr19:46637489..46744391hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38106603
hg19106603
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644521
Supporting Variants
SamplesHG01860
Known GenesDKFZp434J0226, IGFL1, IGFL2, RNU6-66P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16068717
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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