A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663631



Internal ID9583050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:25952538..25953616hg38UCSC Ensembl
chr12:26105471..26106549hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg381079
hg191079
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6479561, essv6224535, essv5707877, essv5952509, essv5827933, essv6228609, essv6333408, essv5482718, essv6004562, essv5565946, essv5459959
SamplesNA19704, NA19350, NA19904, NA19385, NA19901, NA19462, NA19982, NA19147, NA19435, NA19376, NA19713
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663631
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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