A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669036



Internal ID9588455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121164341..121167482hg38UCSC Ensembl
chr12:121602144..121605285hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg383142
hg193142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv319e199
Supporting Variantsessv6082594
SamplesHG01350
Known GenesP2RX7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669036
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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