A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5853910



Internal ID9167098
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 StatusS
Merged Variantsesv2673200
Supporting Variants
SamplesHG01366
Known GenesFAM19A2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5853910
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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