A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6224794



Internal ID9703619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:125158145..125168545hg38UCSC Ensembl
chr12:125642691..125653091hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3810401
hg1910401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2665037
Supporting Variants
SamplesNA19453
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6224794
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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