A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677238



Internal ID9596657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:148021092..148030037hg38UCSC Ensembl
chr5:147400655..147409600hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg388946
hg198946
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6226257
SamplesHG00731
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677238
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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