A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662980



Internal ID9582399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1472680..1478701hg38UCSC Ensembl
Outerchr12:1472523..1478854hg38UCSC Ensembl
Innerchr12:1581846..1587867hg19UCSC Ensembl
Outerchr12:1581689..1588020hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg386332
hg196332
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6347309, essv5659518, essv5544385
SamplesHG00577, HG00584, HG00595
Known GenesERC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662980
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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