A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677277



Internal ID9943382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:59708609..59710166hg38UCSC Ensembl
chr12:60102390..60103947hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg381558
hg191558
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv295e199
Supporting Variantsessv5714475, essv5797885, essv5562041, essv6458433, essv6007336
SamplesNA18861, NA19098, NA18871, NA18853, NA18523
Known GenesSLC16A7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677277
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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