A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718789



Internal ID9953081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:52580419..52581314hg38UCSC Ensembl
Outerchr19:53083672..53084567hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38896
hg19896
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6744757, essv6863658, essv6735844, essv6858818, essv6909824, essv6852851, essv6961063, essv6868454, essv6666521, essv6895602, essv6766384, essv6738659, essv6885798, essv6892117, essv6820930, essv6756374
SamplesSSM087, SSM097, SSM050, SSM088, SSM058, SSM029, SSM026, SSM089, SSM014, SSM086, SSM078, SSM053, SSM095, SSM098, SSM049, SSM063
Known GenesZNF701
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)esv2718789
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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