A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5793507



Internal ID9709428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31995684..32000055hg38UCSC Ensembl
chr12:32148618..32152989hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg384372
hg194372
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2676642
Supporting Variants
SamplesNA19462
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5793507
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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