A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12134102



Internal ID4197013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173068983..173071831hg38UCSC Ensembl
Innerchr5:173069133..173071681hg38UCSC Ensembl
Outerchr5:173068833..173071981hg38UCSC Ensembl
chr5:172495986..172498834hg19UCSC Ensembl
Innerchr5:172496136..172498684hg19UCSC Ensembl
Outerchr5:172495836..172498984hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg382849
hg192849
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607606
Supporting Variants
SamplesHG03784
Known GenesCREBRF
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12134102
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