A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629067



Internal ID6669207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32177452..32182992hg38UCSC Ensembl
Innerchr12:32177952..32182492hg38UCSC Ensembl
Outerchr12:32176452..32183992hg38UCSC Ensembl
chr12:32330386..32335926hg19UCSC Ensembl
Innerchr12:32330886..32335426hg19UCSC Ensembl
Outerchr12:32329386..32336926hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg385541
hg195541
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14437025, essv14437021, essv14437023, essv14437009, essv14437012, essv14437028, essv14437007, essv14437016, essv14437013, essv14437014, essv14437022, essv14437026, essv14437030, essv14437020, essv14437008, essv14437015, essv14437027, essv14437019, essv14437010, essv14437029, essv14437011, essv14437018, essv14437017, essv14437024
SamplesNA20874, HG00100, HG00261, HG01098, NA12815, NA20588, HG00334, NA20798, HG01311, NA11840, HG00337, HG01756, NA11995, NA12234, NA20587, HG00233, HG03870, HG00132, HG03872, NA12717, NA12874, HG01678, HG01976, NA19746
Known GenesBICD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629067
Frequency
Sample Size2504
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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