A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630757



Internal ID6670891
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14604408, essv14604407, essv14604406
SamplesHG01613, HG00254, NA19786
Known GenesATXN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630757
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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