A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696066



Internal ID15056176
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 Flag1
Merged StatusS
Merged Variantsesv3367563
Supporting Variants
SamplesNA19239
Known GenesPMS2P5, SPDYE8P
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696066
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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