A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670990



Internal ID9937095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:119121876..119122776hg38UCSC Ensembl
Outerchr5:119121719..119122929hg38UCSC Ensembl
Innerchr5:118457571..118458471hg19UCSC Ensembl
Outerchr5:118457414..118458624hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg381211
hg191211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6321625, essv6563527, essv6018771
SamplesHG00118, HG00245, HG00252
Known GenesDMXL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670990
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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