A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11427916



Internal ID5683764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:47965695..47977931hg38UCSC Ensembl
Innerchr4:47965845..47977781hg38UCSC Ensembl
Outerchr4:47965545..47978081hg38UCSC Ensembl
chr4:47967712..47979948hg19UCSC Ensembl
Innerchr4:47967862..47979798hg19UCSC Ensembl
Outerchr4:47967562..47980098hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3812237
hg1912237
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600456
Supporting Variants
SamplesNA19082
Known GenesCNGA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11427916
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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