A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592188



Internal ID6979515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:120751408..120796151hg38UCSC Ensembl
chr2:121508984..121553727hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3844744
hg1944744
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10641191, essv10641190
SamplesHG03645, NA18574
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592188
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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