A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6181035



Internal ID9158438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:91766504..91767776hg38UCSC Ensembl
chr1:92232061..92233333hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381273
hg191273
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2661714
Supporting Variants
SamplesHG00247
Known GenesTGFBR3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6181035
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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