A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14621970



Internal ID4623786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123628459..123712471hg38UCSC Ensembl
Innerchr12:123628609..123712321hg38UCSC Ensembl
Outerchr12:123628309..123712621hg38UCSC Ensembl
chr12:124113006..124197018hg19UCSC Ensembl
Innerchr12:124113156..124196868hg19UCSC Ensembl
Outerchr12:124112856..124197168hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3884013
hg1984013
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630995
Supporting Variants
SamplesHG01357
Known GenesATP6V0A2, EIF2B1, GTF2H3, TCTN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14621970
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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