A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6144835



Internal ID9728983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:53666134..53669296hg38UCSC Ensembl
Outerchr5:53666097..53669346hg38UCSC Ensembl
Innerchr5:52961964..52965126hg19UCSC Ensembl
Outerchr5:52961927..52965176hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg383250
hg193250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2678642
Supporting Variants
SamplesNA19652
Known GenesNDUFS4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6144835
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