A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717878



Internal ID9952169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:2131673..2131842hg38UCSC Ensembl
Outerchr19:2131672..2131841hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38170
hg19170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6784601, essv6703485, essv6685885
SamplesSSM039, SSM068, SSM034
Known GenesAP3D1
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)esv2717878
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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