A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5560249



Internal ID9796593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:231831086..232231066hg38UCSC Ensembl
chr1:231966832..232366812hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38399981
hg19399981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2657352
Supporting Variants
SamplesNA19818
Known GenesDISC1, TSNAX-DISC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5560249
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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