A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630970



Internal ID6671103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122212979..122215079hg38UCSC Ensembl
Innerchr12:122213029..122215029hg38UCSC Ensembl
Outerchr12:122212929..122215129hg38UCSC Ensembl
chr12:122697526..122699626hg19UCSC Ensembl
Innerchr12:122697576..122699576hg19UCSC Ensembl
Outerchr12:122697476..122699676hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382101
hg192101
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14620095, essv14620097, essv14620096, essv14620098
SamplesHG00372, HG02301, HG01992, HG01951
Known GenesDIABLO
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630970
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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