A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666199



Internal ID9932304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:139021690..139026315hg38UCSC Ensembl
Outerchr5:139021653..139026365hg38UCSC Ensembl
Innerchr5:138357379..138362004hg19UCSC Ensembl
Outerchr5:138357342..138362054hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg384713
hg194713
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5659818
SamplesHG00479
Known GenesSIL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666199
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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