A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14604250



Internal ID4606066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111538487..111542196hg38UCSC Ensembl
Innerchr12:111538487..111542196hg38UCSC Ensembl
Outerchr12:111538186..111542479hg38UCSC Ensembl
chr12:111976291..111980000hg19UCSC Ensembl
Innerchr12:111976291..111980000hg19UCSC Ensembl
Outerchr12:111975990..111980283hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg383710
hg193710
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630756
Supporting Variants
SamplesHG00313
Known GenesATXN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14604250
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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