A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14649904



Internal ID4651720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132801812..132847948hg38UCSC Ensembl
Innerchr12:132801844..132847917hg38UCSC Ensembl
Outerchr12:132801781..132847980hg38UCSC Ensembl
chr12:133378398..133424534hg19UCSC Ensembl
Innerchr12:133378430..133424503hg19UCSC Ensembl
Outerchr12:133378367..133424566hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3846137
hg1946137
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631318
Supporting Variants
SamplesNA19917
Known GenesCHFR, GOLGA3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14649904
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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