A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11416631



Internal ID1199573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:43896067..43900550hg38UCSC Ensembl
Innerchr4:43896067..43900550hg38UCSC Ensembl
Outerchr4:43895750..43900809hg38UCSC Ensembl
chr4:43898084..43902567hg19UCSC Ensembl
Innerchr4:43898084..43902567hg19UCSC Ensembl
Outerchr4:43897767..43902826hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg384484
hg194484
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600381
Supporting Variants
SamplesHG01070
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11416631
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