A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3343961



Internal ID14844228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:77351443..77351456hg38UCSC Ensembl
Innerchr7:77351442..77351457hg38UCSC Ensembl
Outerchr7:77351429..77351470hg38UCSC Ensembl
chr7:76980760..76980773hg19UCSC Ensembl
Innerchr7:76980759..76980774hg19UCSC Ensembl
Outerchr7:76980746..76980787hg19UCSC Ensembl
chr7:76818696..76818709hg18UCSC Ensembl
Innerchr7:76818710..76818695hg18UCSC Ensembl
Outerchr7:76818682..76818723hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38278
hg19278
hg18278
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8676855
SamplesNA19239
Known GenesGSAP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3343961
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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