A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718716



Internal ID10302352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:49443948..49444492hg38UCSC Ensembl
Outerchr19:49947205..49947749hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38545
hg19545
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6674835, essv6871512, essv6792971, essv6756365, essv6885793, essv6909816, essv6699418, essv6863646, essv6713971, essv6971974, essv6892111, essv6946172, essv6788851, essv6689084, essv6685939, essv6839688, essv6967530, essv6852845, essv6868449
SamplesSSM083, SSM027, SSM038, SSM097, SSM042, SSM088, SSM023, SSM058, SSM028, SSM090, SSM069, SSM089, SSM035, SSM031, SSM014, SSM086, SSM070, SSM095, SSM034
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)esv2718716
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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