A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657617



Internal ID9577036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:71849788..71850641hg38UCSC Ensembl
chr12:72243568..72244421hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38854
hg19854
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5578823
SamplesNA18858
Known GenesMRS2P2, TBC1D15
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657617
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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