A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673200



Internal ID9592619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:61735712..61737779hg38UCSC Ensembl
Outerchr12:61735675..61737829hg38UCSC Ensembl
Innerchr12:62129493..62131560hg19UCSC Ensembl
Outerchr12:62129456..62131610hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg382155
hg192155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5853910
SamplesHG01366
Known GenesFAM19A2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673200
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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