A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652354



Internal ID15103196
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 StatusS
Merged Variantsesv3438653
Supporting Variants
SamplesNA19240
Known GenesSVOPL
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652354
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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