A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694368



Internal ID15043785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2215527..2217525hg38UCSC Ensembl
Innerchr4:2216525..2216527hg38UCSC Ensembl
Outerchr4:2214527..2218525hg38UCSC Ensembl
chr4:2217254..2219252hg19UCSC Ensembl
Innerchr4:2218252..2218254hg19UCSC Ensembl
Outerchr4:2216254..2220252hg19UCSC Ensembl
chr4:2187052..2189050hg18UCSC Ensembl
Innerchr4:2188052..2188050hg18UCSC Ensembl
Outerchr4:2186052..2190050hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3364243
Supporting Variants
SamplesNA19239
Known GenesPOLN
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694368
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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