A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5943203



Internal ID9190765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101362525..101363179hg38UCSC Ensembl
chr12:101756303..101756957hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38655
hg19655
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2663815
Supporting Variants
SamplesHG01488
Known GenesUTP20
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5943203
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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