A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669081



Internal ID9588500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1872885..1876742hg38UCSC Ensembl
Outerchr12:1872848..1876792hg38UCSC Ensembl
Innerchr12:1982051..1985908hg19UCSC Ensembl
Outerchr12:1982014..1985958hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg383945
hg193945
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5549188
SamplesNA19393
Known GenesCACNA2D4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669081
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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