A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14604412



Internal ID4606228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111593193..111594602hg38UCSC Ensembl
Innerchr12:111593204..111594592hg38UCSC Ensembl
Outerchr12:111593183..111594613hg38UCSC Ensembl
chr12:112030997..112032406hg19UCSC Ensembl
Innerchr12:112031008..112032396hg19UCSC Ensembl
Outerchr12:112030987..112032417hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg381410
hg191410
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630759
Supporting Variants
SamplesHG01372
Known GenesATXN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14604412
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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