A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10471027



Internal ID5698346
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590456
Supporting Variants
SamplesNA19088
Known GenesSLC8A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10471027
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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