A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6587269



Internal ID9472219
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 Flag1
Merged StatusS
Merged Variantsesv2665391
Supporting Variants
SamplesNA18943
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6587269
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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