A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717823



Internal ID9952114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1051182..1051587hg38UCSC Ensembl
Outerchr19:1051181..1051586hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38406
hg19406
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6816280, essv6960910, essv6880188
SamplesSSM077, SSM093, SSM026
Known GenesABCA7
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)esv2717823
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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