A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11717784



Internal ID6202737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:175974556..176140215hg38UCSC Ensembl
chr4:176895707..177061366hg19UCSC Ensembl
Cytoband4q34.2
Allele length
AssemblyAllele length
hg38165660
hg19165660
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603271
Supporting Variants
SamplesNA19731
Known GenesGPM6A, WDR17
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11717784
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer