A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585911



Internal ID6626225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45616829..45630555hg38UCSC Ensembl
chr1:46082501..46096227hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3813727
hg1913727
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9925778, essv9925776, essv9925780, essv9925781, essv9925777, essv9925779
SamplesHG04042, HG02775, HG03771, HG03752, HG03774, HG04200
Known GenesCCDC17, GPBP1L1, NASP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585911
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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