A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663356



Internal ID9582775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:94165580..94166313hg38UCSC Ensembl
chr12:94559356..94560089hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38734
hg19734
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6243623, essv6365776, essv6094295, essv6506359, essv6569876, essv5686047, essv5535419, essv5646577, essv5481530, essv5743662, essv6036503, essv5827007
SamplesHG00344, NA11920, HG00139, HG00242, HG00346, HG00125, HG00254, NA19725, HG00268, NA12283, HG00119, NA12717
Known GenesPLXNC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663356
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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