A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628487



Internal ID7015311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8900424..8901339hg38UCSC Ensembl
Innerchr12:8900424..8901339hg38UCSC Ensembl
Outerchr12:8900111..8901680hg38UCSC Ensembl
chr12:9053020..9053935hg19UCSC Ensembl
Innerchr12:9053020..9053935hg19UCSC Ensembl
Outerchr12:9052707..9054276hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38916
hg19916
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14361790, essv14361789, essv14361782, essv14361806, essv14361772, essv14361805, essv14361778, essv14361799, essv14361773, essv14361765, essv14361770, essv14361780, essv14361774, essv14361768, essv14361791, essv14361801, essv14361795, essv14361798, essv14361800, essv14361775, essv14361786, essv14361802, essv14361776, essv14361771, essv14361804, essv14361784, essv14361779, essv14361797, essv14361783, essv14361788, essv14361767, essv14361785, essv14361781, essv14361794, essv14361793, essv14361803, essv14361766, essv14361796, essv14361787, essv14361769, essv14361777, essv14361792
SamplesHG03514, NA19394, HG03548, HG03175, HG03247, NA19350, NA19092, NA19171, HG00736, NA20287, HG03079, HG02281, HG02315, NA19385, HG02420, HG03352, HG02502, HG03073, NA19456, NA19921, HG02479, NA19247, NA18933, HG03575, HG03294, HG03085, NA20299, HG03446, HG02586, NA19321, HG03437, NA19434, NA18865, HG02771, HG03279, NA19185, NA19770, HG03538, HG01251, HG02808, HG02629, HG03265
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628487
Frequency
Sample Size2504
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer