A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688682



Internal ID15013559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:34674750..34703748hg38UCSC Ensembl
Innerchr12:34675750..34702748hg38UCSC Ensembl
Outerchr12:34673750..34703759hg38UCSC Ensembl
chr12:34827685..34856683hg19UCSC Ensembl
Innerchr12:34828685..34855683hg19UCSC Ensembl
Outerchr12:34826685..34856694hg19UCSC Ensembl
chr12:34718952..34747950hg18UCSC Ensembl
Innerchr12:34719952..34746950hg18UCSC Ensembl
Outerchr12:34717952..34748950hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg3828999
hg1928999
hg1828999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3361961
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688682
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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