A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15968102



Internal ID5969918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1264454..1397379hg38UCSC Ensembl
chr19:1264453..1397378hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38132926
hg19132926
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643389
Supporting Variants
SamplesHG00867
Known GenesC19orf24, CIRBP, CIRBP-AS1, EFNA2, GAMT, MUM1, NDUFS7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15968102
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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