A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7863691



Internal ID12969448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42267664..42267672hg38UCSC Ensembl
Innerchr1:42267647..42267689hg38UCSC Ensembl
Outerchr1:42267639..42267697hg38UCSC Ensembl
chr1:42733335..42733343hg19UCSC Ensembl
Innerchr1:42733318..42733360hg19UCSC Ensembl
Outerchr1:42733310..42733368hg19UCSC Ensembl
chr1:42505922..42505930hg18UCSC Ensembl
Innerchr1:42505947..42505905hg18UCSC Ensembl
Outerchr1:42505897..42505955hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3414902
Supporting Variants
SamplesNA12005
Known GenesFOXJ3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7863691
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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