A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718853



Internal ID9953145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54109493..54110225hg38UCSC Ensembl
Outerchr19:54612800..54613608hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38733
hg19809
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6666540, essv6696753, essv6692513, essv6895609, essv6816365, essv6941491, essv6788873, essv6756385, essv6761701, essv6729365, essv6880259, essv6801362, essv6776708, essv6707081, essv6933021, essv6971987, essv6733228, essv6824707, essv6858833, essv6780551, essv6744771, essv6921431, essv6721733, essv6961075, essv6703594, essv6713988, essv6792991, essv6694377, essv6710375
SamplesSSM036, SSM046, SSM079, SSM087, SSM039, SSM093, SSM042, SSM041, SSM058, SSM028, SSM047, SSM069, SSM061, SSM029, SSM026, SSM017, SSM067, SSM044, SSM066, SSM040, SSM072, SSM020, SSM053, SSM005, SSM037, SSM077, SSM022, SSM070, SSM098
Known GenesTFPT
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)esv2718853
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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