A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717916



Internal ID9952207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:2836084..2836206hg38UCSC Ensembl
Outerchr19:2836082..2836204hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6967402, essv6858674, essv6674731, essv6892062, essv6713900, essv6678829, essv6852733
SamplesSSM027, SSM087, SSM097, SSM042, SSM032, SSM031, SSM086
Known GenesZNF554
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)esv2717916
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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