A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7837632



Internal ID15082109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102916895..102916896hg38UCSC Ensembl
Innerchr12:102916867..102916924hg38UCSC Ensembl
Outerchr12:102916866..102916925hg38UCSC Ensembl
chr12:103310673..103310674hg19UCSC Ensembl
Innerchr12:103310645..103310702hg19UCSC Ensembl
Outerchr12:103310644..103310703hg19UCSC Ensembl
chr12:101834803..101834804hg18UCSC Ensembl
Innerchr12:101834832..101834775hg18UCSC Ensembl
Outerchr12:101834774..101834833hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38153
hg19153
hg18153
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3310391
Supporting Variants
SamplesNA19240
Known GenesPAH
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7837632
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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