A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11590657



Internal ID1592473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:121980473..122183809hg38UCSC Ensembl
chr4:122901628..123104964hg19UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg38203337
hg19203337
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602018
Supporting Variants
SamplesHG03789
Known GenesKIAA1109
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11590657
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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