A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14549925



Internal ID2861599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:81338734..81394734hg38UCSC Ensembl
chr12:81732513..81788513hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3856001
hg1956001
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630133
Supporting Variants
SamplesHG02537
Known GenesPPFIA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14549925
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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