A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8676859



Internal ID13356332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:80793825..80793874hg38UCSC Ensembl
Innerchr7:80793841..80793858hg38UCSC Ensembl
Outerchr7:80793809..80793890hg38UCSC Ensembl
chr7:80423141..80423190hg19UCSC Ensembl
Innerchr7:80423157..80423174hg19UCSC Ensembl
Outerchr7:80423125..80423206hg19UCSC Ensembl
chr7:80261077..80261126hg18UCSC Ensembl
Innerchr7:80261093..80261110hg18UCSC Ensembl
Outerchr7:80261061..80261142hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38237
hg19237
hg18237
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3344655
Supporting Variants
SamplesNA12891
Known GenesSEMA3C
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8676859
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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