A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657968



Internal ID9924073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:137019953..137036610hg38UCSC Ensembl
chr2:137777523..137794180hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3816658
hg1916658
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5745376
SamplesNA18983
Known GenesTHSD7B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657968
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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