A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5673021



Internal ID8650424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1085081..1090887hg38UCSC Ensembl
chr12:1194247..1200053hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg385807
hg195807
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2676743
Supporting Variants
SamplesHG01069
Known GenesERC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5673021
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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