A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864778



Internal ID13317390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:135886143..135886183hg38UCSC Ensembl
Innerchr7:135886145..135886181hg38UCSC Ensembl
Outerchr7:135886141..135886185hg38UCSC Ensembl
chr7:135570891..135570931hg19UCSC Ensembl
Innerchr7:135570893..135570929hg19UCSC Ensembl
Outerchr7:135570889..135570933hg19UCSC Ensembl
chr7:135221431..135221471hg18UCSC Ensembl
Innerchr7:135221433..135221469hg18UCSC Ensembl
Outerchr7:135221429..135221473hg18UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3331755
Supporting Variants
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864778
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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