A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644502



Internal ID6684569
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16066511, essv16066509, essv16066510
SamplesNA07357, NA12234, NA20804
Known GenesERCC2, KLC3, PPP1R13L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644502
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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