A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630946



Internal ID6671079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121313110..121314173hg38UCSC Ensembl
Innerchr12:121313151..121314133hg38UCSC Ensembl
Outerchr12:121313070..121314214hg38UCSC Ensembl
chr12:121750913..121751976hg19UCSC Ensembl
Innerchr12:121750954..121751936hg19UCSC Ensembl
Outerchr12:121750873..121752017hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381064
hg191064
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14619050
SamplesHG03105
Known GenesANAPC5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630946
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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