A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694608



Internal ID15045973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150106196..150108794hg38UCSC Ensembl
Innerchr5:150107196..150107794hg38UCSC Ensembl
Outerchr5:150105196..150109794hg38UCSC Ensembl
chr5:149485759..149488357hg19UCSC Ensembl
Innerchr5:149486759..149487357hg19UCSC Ensembl
Outerchr5:149484759..149489357hg19UCSC Ensembl
chr5:149465952..149468550hg18UCSC Ensembl
Innerchr5:149466952..149467550hg18UCSC Ensembl
Outerchr5:149464952..149469550hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg382599
hg192599
hg182599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3450620
Supporting Variants
SamplesNA19239
Known GenesCSF1R
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694608
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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