A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12015777



Internal ID6270649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:109061189..109075436hg38UCSC Ensembl
Innerchr5:109061189..109075436hg38UCSC Ensembl
Outerchr5:109060689..109075936hg38UCSC Ensembl
chr5:108396890..108411137hg19UCSC Ensembl
Innerchr5:108396890..108411137hg19UCSC Ensembl
Outerchr5:108396390..108411637hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3814248
hg1914248
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606214
Supporting Variants
SamplesNA19788
Known GenesFER
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12015777
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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