A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3424694



Internal ID14924965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:75670776..75670799hg38UCSC Ensembl
Innerchr4:75670778..75670797hg38UCSC Ensembl
Outerchr4:75670755..75670820hg38UCSC Ensembl
chr4:76595960..76595983hg19UCSC Ensembl
Innerchr4:76595962..76595981hg19UCSC Ensembl
Outerchr4:76595939..76596004hg19UCSC Ensembl
chr4:76814984..76815007hg18UCSC Ensembl
Innerchr4:76815005..76814986hg18UCSC Ensembl
Outerchr4:76814963..76815028hg18UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg38235
hg19235
hg18235
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8675652
SamplesNA19239
Known GenesG3BP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3424694
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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