A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11313843



Internal ID1315659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:72387..210448hg38UCSC Ensembl
chr4:72279..204237hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38138062
hg19131959
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599347
Supporting Variants
SamplesHG02116
Known GenesZNF595, ZNF718
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11313843
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