A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731389



Internal ID13277000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32159936..32160000hg38UCSC Ensembl
Innerchr12:32159967..32159968hg38UCSC Ensembl
Outerchr12:32159836..32160100hg38UCSC Ensembl
chr12:32312870..32312934hg19UCSC Ensembl
Innerchr12:32312901..32312902hg19UCSC Ensembl
Outerchr12:32312770..32313034hg19UCSC Ensembl
chr12:32204137..32204201hg18UCSC Ensembl
Innerchr12:32204169..32204168hg18UCSC Ensembl
Outerchr12:32204037..32204301hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3865
hg1965
hg1865
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302556
Supporting Variants
SamplesNA12878
Known GenesBICD1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731389
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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