A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590456



Internal ID6977785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:40297042..40319035hg38UCSC Ensembl
chr2:40524182..40546175hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3821994
hg1921994
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv688e214
Supporting Variantsessv10471026, essv10471025, essv10471027
SamplesNA19088, NA18977, HG03702
Known GenesSLC8A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590456
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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