A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11317185



Internal ID1319001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2940424..3030117hg38UCSC Ensembl
Innerchr4:2940574..3029967hg38UCSC Ensembl
Outerchr4:2940274..3030267hg38UCSC Ensembl
chr4:2942151..3031844hg19UCSC Ensembl
Innerchr4:2942301..3031694hg19UCSC Ensembl
Outerchr4:2942001..3031994hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3889694
hg1989694
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599412
Supporting Variants
SamplesHG00732
Known GenesGRK4, NOP14, NOP14-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11317185
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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