A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696061



Internal ID15056113
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 Flag1
Merged StatusS
Merged Variantsesv3389108
Supporting Variants
SamplesNA19239
Known GenesPMS2P5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696061
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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