A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11595799



Internal ID2017344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:126512808..126567642hg38UCSC Ensembl
Innerchr4:126512808..126567642hg38UCSC Ensembl
Outerchr4:126512308..126568142hg38UCSC Ensembl
chr4:127433963..127488797hg19UCSC Ensembl
Innerchr4:127433963..127488797hg19UCSC Ensembl
Outerchr4:127433463..127489297hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg3854835
hg1954835
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602127
Supporting Variants
SamplesHG01859
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11595799
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