A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5401395



Internal ID8378798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31799225..31801552hg38UCSC Ensembl
chr12:31952159..31954486hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg382328
hg192328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2666543
Supporting Variants
SamplesNA19338
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5401395
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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