A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630758



Internal ID6670892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111577794..111584010hg38UCSC Ensembl
Innerchr12:111577794..111584010hg38UCSC Ensembl
Outerchr12:111577294..111584510hg38UCSC Ensembl
chr12:112015598..112021814hg19UCSC Ensembl
Innerchr12:112015598..112021814hg19UCSC Ensembl
Outerchr12:112015098..112022314hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg386217
hg196217
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14604411, essv14604410, essv14604409
SamplesHG01613, HG00254, NA19786
Known GenesATXN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630758
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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