A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630181



Internal ID7017000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:83547838..83572087hg38UCSC Ensembl
Innerchr12:83547875..83572051hg38UCSC Ensembl
Outerchr12:83547802..83572124hg38UCSC Ensembl
chr12:83941617..83965866hg19UCSC Ensembl
Innerchr12:83941654..83965830hg19UCSC Ensembl
Outerchr12:83941581..83965903hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3824250
hg1924250
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14552070
SamplesHG01935
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630181
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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