A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16066510



Internal ID6068326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45323147..45403933hg38UCSC Ensembl
chr19:45826405..45907191hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3880787
hg1980787
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644502
Supporting Variants
SamplesNA12234
Known GenesERCC2, KLC3, PPP1R13L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16066510
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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