A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665391



Internal ID9931496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:55247269..55251310hg38UCSC Ensembl
Outerchr5:55247112..55251463hg38UCSC Ensembl
Innerchr5:54543097..54547138hg19UCSC Ensembl
Outerchr5:54542940..54547291hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg384352
hg194352
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5951392, essv5726670, essv6587269
SamplesHG00403, NA18542, NA18943
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665391
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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