A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676781



Internal ID9596200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:141519577..141526850hg38UCSC Ensembl
Outerchr3:141519540..141526900hg38UCSC Ensembl
Innerchr3:141238419..141245692hg19UCSC Ensembl
Outerchr3:141238382..141245742hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg387361
hg197361
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6037495
SamplesHG00530
Known GenesRASA2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676781
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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