A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14486529



Internal ID4386678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55668252..55676079hg38UCSC Ensembl
chr12:56062036..56069863hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg387828
hg197828
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629587
Supporting Variants
SamplesHG03910
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14486529
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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