A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630623



Internal ID7017439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:103983050..103984700hg38UCSC Ensembl
Innerchr12:103983100..103984650hg38UCSC Ensembl
Outerchr12:103983000..103984750hg38UCSC Ensembl
chr12:104376828..104378478hg19UCSC Ensembl
Innerchr12:104376878..104378428hg19UCSC Ensembl
Outerchr12:104376778..104378528hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381651
hg191651
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14596788, essv14596795, essv14596793, essv14596794, essv14596785, essv14596797, essv14596790, essv14596791, essv14596796, essv14596792, essv14596786, essv14596783, essv14596784, essv14596798, essv14596789, essv14596787
SamplesHG02323, NA19684, NA18574, HG02512, HG01864, HG03136, NA21141, NA18856, HG02684, NA20902, NA19818, HG02694, NA19713, NA21133, HG01111, HG00628
Known GenesTDG
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630623
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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