A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7865573



Internal ID12971262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48679262..48679271hg38UCSC Ensembl
Innerchr12:48679264..48679269hg38UCSC Ensembl
Outerchr12:48679260..48679273hg38UCSC Ensembl
chr12:49073045..49073054hg19UCSC Ensembl
Innerchr12:49073047..49073052hg19UCSC Ensembl
Outerchr12:49073043..49073056hg19UCSC Ensembl
chr12:47359312..47359321hg18UCSC Ensembl
Innerchr12:47359314..47359319hg18UCSC Ensembl
Outerchr12:47359310..47359323hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3409205
Supporting Variants
SamplesNA12005
Known GenesKANSL2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7865573
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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