A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666524



Internal ID9585943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1293096..1293545hg38UCSC Ensembl
Outerchr12:1293046..1293595hg38UCSC Ensembl
Innerchr12:1402262..1402711hg19UCSC Ensembl
Outerchr12:1402212..1402761hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38550
hg19550
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5758938, essv5452498, essv6418562, essv6543091, essv5856307, essv5707852, essv6462919, essv5880060, essv5510738, essv5920805, essv5911675, essv5527134, essv5621586, essv5791757, essv6595599, essv5621612, essv5423118
SamplesHG01441, NA20796, HG00122, NA18546, HG01461, HG00259, HG01047, HG00125, HG00325, HG00176, NA19707, NA18606, NA19078, NA20799, HG01390, HG01108, HG01251
Known GenesERC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666524
Frequency
Sample Size1151
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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