A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629305



Internal ID7016127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:41100857..41124014hg38UCSC Ensembl
Innerchr12:41100861..41124010hg38UCSC Ensembl
Outerchr12:41100853..41124018hg38UCSC Ensembl
chr12:41494659..41517816hg19UCSC Ensembl
Innerchr12:41494663..41517812hg19UCSC Ensembl
Outerchr12:41494655..41517820hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3823158
hg1923158
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14456430, essv14456431
SamplesHG02419, NA19147
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629305
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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