A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7760046



Internal ID13784845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:96083440..96083441hg38UCSC Ensembl
Innerchr7:96083410..96083471hg38UCSC Ensembl
Outerchr7:96083409..96083472hg38UCSC Ensembl
chr7:95712752..95712753hg19UCSC Ensembl
Innerchr7:95712722..95712783hg19UCSC Ensembl
Outerchr7:95712721..95712784hg19UCSC Ensembl
chr7:95550688..95550689hg18UCSC Ensembl
Innerchr7:95550719..95550658hg18UCSC Ensembl
Outerchr7:95550657..95550720hg18UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg3859
hg1959
hg1859
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3306096
Supporting Variants
SamplesNA18501
Known GenesDYNC1I1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7760046
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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