A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630748



Internal ID6670882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111073147..111074977hg38UCSC Ensembl
Innerchr12:111073147..111074977hg38UCSC Ensembl
Outerchr12:111072950..111075305hg38UCSC Ensembl
chr12:111510951..111512781hg19UCSC Ensembl
Innerchr12:111510951..111512781hg19UCSC Ensembl
Outerchr12:111510754..111513109hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg381831
hg191831
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14604177, essv14604171, essv14604169, essv14604174, essv14604163, essv14604168, essv14604180, essv14604170, essv14604181, essv14604165, essv14604176, essv14604160, essv14604157, essv14604164, essv14604162, essv14604172, essv14604173, essv14604167, essv14604161, essv14604175, essv14604156, essv14604158, essv14604178, essv14604159, essv14604166, essv14604179
SamplesNA18924, HG03280, NA19393, HG03172, HG02895, NA18510, NA19198, NA19917, NA19451, HG03048, HG02479, NA19403, HG02887, NA18879, NA18853, HG03354, HG02484, HG02330, HG02839, NA19248, HG03112, NA18873, NA19030, HG02947, NA19463, HG03196
Known GenesCUX2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630748
Frequency
Sample Size2504
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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