A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678152



Internal ID9597571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1293400..1293584hg38UCSC Ensembl
chr12:1402566..1402750hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv256e199
Supporting Variantsessv5580367, essv5980004, essv6121283, essv5779018, essv5827718, essv6120005, essv5539627, essv6157658
SamplesNA20342, HG00313, HG01360, HG01334, NA18953, NA19380, HG00256, NA19376
Known GenesERC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678152
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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