A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629393



Internal ID7016215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45842105..45843381hg38UCSC Ensembl
Innerchr12:45842155..45843331hg38UCSC Ensembl
Outerchr12:45841991..45843495hg38UCSC Ensembl
chr12:46235888..46237164hg19UCSC Ensembl
Innerchr12:46235938..46237114hg19UCSC Ensembl
Outerchr12:46235774..46237278hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg381277
hg191277
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14473735, essv14473738, essv14473730, essv14473733, essv14473710, essv14473705, essv14473709, essv14473707, essv14473724, essv14473714, essv14473722, essv14473734, essv14473726, essv14473732, essv14473706, essv14473718, essv14473725, essv14473711, essv14473720, essv14473708, essv14473721, essv14473728, essv14473715, essv14473739, essv14473729, essv14473727, essv14473719, essv14473737, essv14473712, essv14473723, essv14473736, essv14473713, essv14473731, essv14473717, essv14473704, essv14473716
SamplesHG03548, HG02433, NA19819, HG03172, NA19920, HG03478, HG03074, HG03086, HG02756, HG02549, HG02420, NA19159, NA19247, NA19210, HG02233, NA19347, NA19982, NA18910, HG02508, HG02884, HG01182, HG02256, HG02255, HG02330, NA19712, HG01396, HG02611, HG02580, NA19360, NA19475, HG03097, HG03313, HG02646, NA19102, HG02679, HG02013
Known GenesARID2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629393
Frequency
Sample Size2504
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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