A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676482



Internal ID9942587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:28958790..28959500hg38UCSC Ensembl
chr12:29111723..29112433hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38711
hg19711
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6569395, essv6270451, essv5964608, essv6437719, essv6332767, essv6065771, essv6413685, essv5508943, essv6270385, essv5861061, essv5631547, essv6409280
SamplesHG00361, HG00150, HG00261, HG00330, HG00369, HG00253, NA20818, NA12775, NA20785, HG00342, NA20502, HG00171
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676482
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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