A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3389108



Internal ID15236075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75318445..75322443hg38UCSC Ensembl
Innerchr7:75319445..75321443hg38UCSC Ensembl
Outerchr7:75317446..75323443hg38UCSC Ensembl
chr7:74947616..74951614hg19UCSC Ensembl
Innerchr7:74948616..74950614hg19UCSC Ensembl
Outerchr7:74946616..74952614hg19UCSC Ensembl
chr7:74785552..74789550hg18UCSC Ensembl
Innerchr7:74786552..74788550hg18UCSC Ensembl
Outerchr7:74784552..74790550hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg383999
hg193999
hg183999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8696061
SamplesNA19239
Known GenesPMS2P5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3389108
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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