A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663682



Internal ID9929787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:150516799..150518777hg38UCSC Ensembl
Outerchr5:150516642..150518930hg38UCSC Ensembl
Innerchr5:149896361..149898339hg19UCSC Ensembl
Outerchr5:149896204..149898492hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg382289
hg192289
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6125703, essv5589964
SamplesHG00731, HG00732
Known GenesNDST1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663682
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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