A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688737



Internal ID15013943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7334489..7335887hg38UCSC Ensembl
Innerchr12:7334887..7335489hg38UCSC Ensembl
Outerchr12:7333489..7336887hg38UCSC Ensembl
chr12:7487085..7488483hg19UCSC Ensembl
Innerchr12:7487483..7488085hg19UCSC Ensembl
Outerchr12:7486085..7489483hg19UCSC Ensembl
chr12:7378352..7379750hg18UCSC Ensembl
Innerchr12:7379352..7378750hg18UCSC Ensembl
Outerchr12:7377352..7380750hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3377113
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688737
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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