A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3381766



Internal ID15228738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75346491..75352495hg38UCSC Ensembl
Innerchr7:75347491..75351493hg38UCSC Ensembl
Outerchr7:75345494..75353467hg38UCSC Ensembl
chr7:74975716..74981714hg19UCSC Ensembl
Innerchr7:74976716..74980714hg19UCSC Ensembl
Outerchr7:74974716..74982714hg19UCSC Ensembl
chr7:74813652..74819650hg18UCSC Ensembl
Innerchr7:74814652..74818650hg18UCSC Ensembl
Outerchr7:74812652..74820650hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg386005
hg195999
hg185999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8696067
SamplesNA19239
Known GenesPMS2P5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3381766
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer