A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11370341



Internal ID5499537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:22699143..22775511hg38UCSC Ensembl
Innerchr4:22699195..22775460hg38UCSC Ensembl
Outerchr4:22699092..22775563hg38UCSC Ensembl
chr4:22700766..22777134hg19UCSC Ensembl
Innerchr4:22700818..22777083hg19UCSC Ensembl
Outerchr4:22700715..22777186hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3876369
hg1976369
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599912
Supporting Variants
SamplesNA18984
Known GenesGBA3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11370341
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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