A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14417590



Internal ID4419406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27451350..27631744hg38UCSC Ensembl
chr12:27604283..27784677hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38180395
hg19180395
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628940
Supporting Variants
SamplesNA19717
Known GenesPPFIBP1, SMCO2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14417590
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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