A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746282



Internal ID9980566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:101919990..101920858hg38UCSC Ensembl
Outerchr12:102313768..102314636hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38869
hg19869
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6735243, essv6755616, essv6702516, essv6758273, essv6851284, essv6959357, essv6744075, essv6819771, essv6876712, essv6724556, essv6741116, essv6800276, essv6977294, essv6862463, essv6965865, essv6775757, essv6857291
SamplesSSM059, SSM027, SSM045, SSM087, SSM039, SSM088, SSM058, SSM092, SSM029, SSM026, SSM086, SSM066, SSM072, SSM078, SSM053, SSM052, SSM049
Known GenesDRAM1
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)esv2746282
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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