A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630932



Internal ID6671065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120878969..120883158hg38UCSC Ensembl
Innerchr12:120878969..120883158hg38UCSC Ensembl
Outerchr12:120878698..120883434hg38UCSC Ensembl
chr12:121316772..121320961hg19UCSC Ensembl
Innerchr12:121316772..121320961hg19UCSC Ensembl
Outerchr12:121316501..121321237hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg384190
hg194190
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14618756, essv14618755, essv14618757, essv14618746, essv14618750, essv14618752, essv14618753, essv14618754, essv14618751, essv14618749, essv14618747, essv14618748
SamplesHG02330, HG02952, HG03046, HG03485, HG01092, NA19917, HG02941, HG02325, HG02541, NA19384, HG03511, NA19025
Known GenesSPPL3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630932
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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