A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674462



Internal ID9940567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102848291..102848588hg38UCSC Ensembl
chr12:103242069..103242366hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5945354, essv5458367, essv5625226, essv6390845, essv5543154, essv5663284, essv6471761, essv6116530, essv6394439, essv6442582, essv6147100, essv6415326, essv5741865
SamplesHG01070, NA20287, HG00277, HG01069, HG00232, HG00323, HG01171, HG00263, HG01073, HG01101, HG00336, HG00310, NA18620
Known GenesPAH
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674462
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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