A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11632897



Internal ID4399258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:139045595..139046662hg38UCSC Ensembl
Innerchr4:139045648..139046609hg38UCSC Ensembl
Outerchr4:139045542..139046715hg38UCSC Ensembl
chr4:139966749..139967816hg19UCSC Ensembl
Innerchr4:139966802..139967763hg19UCSC Ensembl
Outerchr4:139966696..139967869hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg381068
hg191068
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602431
Supporting Variants
SamplesHG03917
Known GenesCCRN4L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11632897
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