A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589838



Internal ID6977168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:13059770..13144140hg38UCSC Ensembl
chr2:13199895..13284265hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3884371
hg1984371
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10412587, essv10412586, essv10412594, essv10412595, essv10412590, essv10412588, essv10412592, essv10412591, essv10412589, essv10412585, essv10412593
SamplesHG00102, HG01359, HG02262, NA20752, HG01351, HG00160, HG01362, NA20790, NA20778, NA19679, HG01468
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589838
Frequency
Sample Size2504
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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