A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14417814



Internal ID4419630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27495241..27502269hg38UCSC Ensembl
chr12:27648174..27655202hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg387029
hg197029
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628942
Supporting Variants
SamplesNA19717
Known GenesSMCO2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14417814
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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