A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657004



Internal ID9923109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:39907896..39922012hg38UCSC Ensembl
chr12:40301698..40315814hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3814117
hg1914117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6278588, essv6070925, essv6031836, essv5936241, essv5620094, essv5905904, essv5500742
SamplesNA18502, NA18867, NA19114, NA19452, HG01107, NA19435, NA18505
Known GenesSLC2A13
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657004
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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