A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721132



Internal ID10304768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:172041245..172045606hg38UCSC Ensembl
Outerchr2:172906156..172910334hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg384362
hg194179
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6962229, essv6896135, essv6759366, essv6810631, essv6942278, essv6819743, essv6718559, essv6847690, essv6669658, essv6788077, essv6829380, essv6739188, essv6672254, essv6938100, essv6736307, essv6704216, essv6955467, essv6880320
SamplesSSM027, SSM009, SSM050, SSM023, SSM061, SSM026, SSM031, SSM044, SSM086, SSM081, SSM040, SSM005, SSM076, SSM022, SSM010, SSM099, SSM052, SSM012
Known GenesMETAP1D
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2721132
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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