A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7736710



Internal ID12933222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:49898299..49898300hg38UCSC Ensembl
Outerchr12:49898144..49898456hg38UCSC Ensembl
Innerchr12:50292082..50292083hg19UCSC Ensembl
Outerchr12:50291927..50292239hg19UCSC Ensembl
Innerchr12:48578350..48578349hg18UCSC Ensembl
Outerchr12:48578194..48578506hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38313
hg19313
hg18313
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303014
Supporting Variants
SamplesNA11995
Known GenesFAIM2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7736710
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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