A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12066552



Internal ID2556238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134338156..134339304hg38UCSC Ensembl
Innerchr5:134338162..134339298hg38UCSC Ensembl
Outerchr5:134338150..134339310hg38UCSC Ensembl
chr5:133673847..133674995hg19UCSC Ensembl
Innerchr5:133673853..133674989hg19UCSC Ensembl
Outerchr5:133673841..133675001hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg381149
hg191149
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606846
Supporting Variants
SamplesHG02271
Known GenesCDKL3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12066552
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