A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6400148



Internal ID9377551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69532889..69585295hg38UCSC Ensembl
Outerchr5:69532518..69585665hg38UCSC Ensembl
Innerchr5:68828716..68881122hg19UCSC Ensembl
Outerchr5:68828345..68881492hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3853148
hg1953148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2669461
Supporting Variants
SamplesNA18565
Known GenesGTF2H2C, GTF2H2D, OCLN
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6400148
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer