A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659901



Internal ID9926006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122150109..122165978hg38UCSC Ensembl
chr12:122634656..122650525hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3815870
hg1915870
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv323e199
Supporting Variantsessv6428430, essv6378536, essv6222453, essv6545148, essv6485576, essv5915964
SamplesNA19466, HG01250, HG01095, NA19982, NA19248, HG01377
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659901
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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