A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592185



Internal ID6979512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:120706800..120733562hg38UCSC Ensembl
chr2:121464376..121491138hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3826763
hg1926763
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10641187
SamplesHG03645
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592185
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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