A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672987



Internal ID9939092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139197167..139199022hg38UCSC Ensembl
chr5:138532856..138534711hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg381856
hg191856
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5773402
SamplesNA19087
Known GenesSIL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672987
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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