A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5849980



Internal ID9613010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:43085710..43088964hg38UCSC Ensembl
chr5:43085812..43089066hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg383255
hg193255
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2657906
Supporting Variants
SamplesNA19315
Known GenesLOC100506639
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5849980
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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