A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9840606



Internal ID6465899
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584992
Supporting Variants
SamplesHG01631
Known GenesCPSF3L, GLTPD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9840606
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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