A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3438653



Internal ID15285606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:138650254..138650852hg38UCSC Ensembl
Innerchr7:138650254..138650852hg38UCSC Ensembl
Outerchr7:138648991..138651751hg38UCSC Ensembl
chr7:138334999..138335597hg19UCSC Ensembl
Innerchr7:138334999..138335597hg19UCSC Ensembl
Outerchr7:138333736..138336496hg19UCSC Ensembl
chr7:137985539..137986137hg18UCSC Ensembl
Innerchr7:137985539..137986137hg18UCSC Ensembl
Outerchr7:137984276..137987036hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38599
hg19599
hg18599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652354
SamplesNA19240
Known GenesSVOPL
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3438653
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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