A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584992



Internal ID6625311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1314419..1330342hg38UCSC Ensembl
chr1:1249799..1265722hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3815924
hg1915924
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9840607, essv9840606
SamplesNA19189, HG01631
Known GenesCPSF3L, GLTPD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3584992
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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