A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14621526



Internal ID4623342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122701033..122714056hg38UCSC Ensembl
chr12:123185580..123198603hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3813024
hg1913024
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630980
Supporting Variants
SamplesNA18967
Known GenesHCAR2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14621526
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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