A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11516916



Internal ID6371673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:80623312..80788830hg38UCSC Ensembl
chr4:81544466..81709984hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg38165519
hg19165519
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601140
Supporting Variants
SamplesNA20299
Known GenesC4orf22
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11516916
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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