A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718769



Internal ID10302405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:51273121..51273517hg38UCSC Ensembl
Outerchr19:51776375..51776771hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38397
hg19397
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6733214, essv6792979, essv6692493, essv6909819, essv6735840, essv6842043, essv6696737, essv6674844, essv6703584, essv6914963, essv6776701, essv6738655, essv6820926, essv6933001, essv6807175, essv6925404, essv6812982, essv6707063, essv6941474, essv6721717, essv6678892, essv6898413, essv6804239, essv6717387
SamplesSSM036, SSM039, SSM073, SSM050, SSM074, SSM002, SSM047, SSM018, SSM032, SSM031, SSM044, SSM014, SSM066, SSM006, SSM040, SSM020, SSM078, SSM037, SSM076, SSM022, SSM010, SSM070, SSM099, SSM049
Known Genes
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)esv2718769
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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