A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671931



Internal ID9938036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109209905..109210375hg38UCSC Ensembl
chr12:109647710..109648180hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38471
hg19471
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5483839, essv6555719, essv5645714, essv5677336, essv6310012, essv6237344, essv6069708, essv5408868, essv6041469, essv6222648
SamplesNA19057, NA19087, NA18630, NA18532, NA19009, NA18941, NA18615, HG00252, HG00628, NA18612
Known GenesACACB
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671931
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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