A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11317787



Internal ID5496114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:3600086..3699296hg38UCSC Ensembl
chr4:3601813..3701023hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3899211
hg1999211
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599435
Supporting Variants
SamplesNA18983
Known GenesLOC100133461
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11317787
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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