A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3393306



Internal ID15240271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:72049732..72049774hg38UCSC Ensembl
Innerchr4:72049746..72049757hg38UCSC Ensembl
Outerchr4:72049707..72049799hg38UCSC Ensembl
chr4:72915449..72915491hg19UCSC Ensembl
Innerchr4:72915463..72915474hg19UCSC Ensembl
Outerchr4:72915424..72915516hg19UCSC Ensembl
chr4:73134313..73134355hg18UCSC Ensembl
Innerchr4:73134338..73134327hg18UCSC Ensembl
Outerchr4:73134288..73134380hg18UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg382093
hg192093
hg182093
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8919290
SamplesNA18501
Known GenesNPFFR2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3393306
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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