A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688744



Internal ID15013925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:100639743..100641441hg38UCSC Ensembl
Innerchr12:100640441..100640743hg38UCSC Ensembl
Outerchr12:100638743..100642441hg38UCSC Ensembl
chr12:101033521..101035219hg19UCSC Ensembl
Innerchr12:101034219..101034521hg19UCSC Ensembl
Outerchr12:101032521..101036219hg19UCSC Ensembl
chr12:99557652..99559350hg18UCSC Ensembl
Innerchr12:99558652..99558350hg18UCSC Ensembl
Outerchr12:99556652..99560350hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3373590
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688744
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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