A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14343713



Internal ID4319828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4915880..4918909hg38UCSC Ensembl
chr12:5025046..5028075hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg383030
hg193030
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628377
Supporting Variants
SamplesHG03869
Known GenesKCNA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14343713
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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