A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6030876



Internal ID9059862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105547457..105550688hg38UCSC Ensembl
chr12:105941235..105944466hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg383232
hg193232
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2664156
Supporting Variants
SamplesHG00705
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6030876
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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