A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630966



Internal ID6671099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122045071..122047205hg38UCSC Ensembl
Innerchr12:122045128..122047148hg38UCSC Ensembl
Outerchr12:122045014..122047262hg38UCSC Ensembl
chr12:122482977..122485111hg19UCSC Ensembl
Innerchr12:122483034..122485054hg19UCSC Ensembl
Outerchr12:122482920..122485168hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382135
hg192135
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14620035, essv14620036, essv14620030, essv14620031, essv14620038, essv14620037, essv14620039, essv14620032, essv14620033, essv14620040, essv14620034
SamplesNA20903, HG03598, HG03900, HG03760, HG02697, HG01500, NA20845, HG01191, NA20795, HG03644, HG04182
Known GenesBCL7A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630966
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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