A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11559581



Internal ID5057467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:108882618..108889890hg38UCSC Ensembl
Innerchr4:108882618..108889890hg38UCSC Ensembl
Outerchr4:108882118..108890390hg38UCSC Ensembl
chr4:109803774..109811046hg19UCSC Ensembl
Innerchr4:109803774..109811046hg19UCSC Ensembl
Outerchr4:109803274..109811546hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg387273
hg197273
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601731
Supporting Variants
SamplesNA18534
Known GenesCOL25A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11559581
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