A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11717810



Internal ID1719626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:176144758..176386481hg38UCSC Ensembl
chr4:177065909..177307632hg19UCSC Ensembl
Cytoband4q34.2
Allele length
AssemblyAllele length
hg38241724
hg19241724
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603274
Supporting Variants
SamplesNA19731
Known GenesASB5, SPATA4, SPCS3, WDR17
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11717810
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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