A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8926571



Internal ID14959637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:126966451..126966485hg38UCSC Ensembl
Innerchr5:126966453..126966481hg38UCSC Ensembl
Outerchr5:126966421..126966515hg38UCSC Ensembl
chr5:126302143..126302177hg19UCSC Ensembl
Innerchr5:126302145..126302173hg19UCSC Ensembl
Outerchr5:126302113..126302207hg19UCSC Ensembl
chr5:126330042..126330076hg18UCSC Ensembl
Innerchr5:126330072..126330044hg18UCSC Ensembl
Outerchr5:126330012..126330106hg18UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3358268
Supporting Variants
SamplesNA19190
Known GenesMARCH3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8926571
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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