A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5739488



Internal ID8780607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:154310366..154314291hg38UCSC Ensembl
Outerchr5:154310329..154314341hg38UCSC Ensembl
Innerchr5:153689926..153693851hg19UCSC Ensembl
Outerchr5:153689889..153693901hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg384013
hg194013
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2662546
Supporting Variants
SamplesHG00183
Known GenesGALNT10
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5739488
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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