A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585052



Internal ID6625370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3817921..3928224hg38UCSC Ensembl
chr1:3734485..3844788hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38110304
hg19110304
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9842002, essv9842001
SamplesHG02481, NA20872
Known GenesC1orf174, CEP104, DFFB, LINC01134
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585052
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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