A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3367563



Internal ID15214539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75342394..75344592hg38UCSC Ensembl
Innerchr7:75343394..75343592hg38UCSC Ensembl
Outerchr7:75341395..75345592hg38UCSC Ensembl
chr7:74971616..74973814hg19UCSC Ensembl
Innerchr7:74972616..74972814hg19UCSC Ensembl
Outerchr7:74970616..74974814hg19UCSC Ensembl
chr7:74809552..74811750hg18UCSC Ensembl
Innerchr7:74810552..74810750hg18UCSC Ensembl
Outerchr7:74808552..74812750hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg382199
hg192199
hg182199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8696066
SamplesNA19239
Known GenesPMS2P5, SPDYE8P
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3367563
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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