A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16066515



Internal ID6068331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45342675..45373732hg38UCSC Ensembl
chr19:45845933..45876990hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3831058
hg1931058
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644504
Supporting Variants
SamplesNA12234
Known GenesERCC2, KLC3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16066515
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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