A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630930



Internal ID6671063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120714386..120715610hg38UCSC Ensembl
Innerchr12:120714430..120715567hg38UCSC Ensembl
Outerchr12:120714343..120715654hg38UCSC Ensembl
chr12:121152189..121153413hg19UCSC Ensembl
Innerchr12:121152233..121153370hg19UCSC Ensembl
Outerchr12:121152146..121153457hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381225
hg191225
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14618743, essv14618735, essv14618742, essv14618739, essv14618736, essv14618738, essv14618741, essv14618740, essv14618737
SamplesNA19332, NA18489, NA18923, HG02511, NA19206, HG03127, NA19030, HG03198, HG03166
Known GenesUNC119B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630930
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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