A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14604408



Internal ID4606224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111575392..111579193hg38UCSC Ensembl
Innerchr12:111575392..111579193hg38UCSC Ensembl
Outerchr12:111574892..111579693hg38UCSC Ensembl
chr12:112013196..112016997hg19UCSC Ensembl
Innerchr12:112013196..112016997hg19UCSC Ensembl
Outerchr12:112012696..112017497hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg383802
hg193802
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630757
Supporting Variants
SamplesNA19786
Known GenesATXN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14604408
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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