A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718186



Internal ID9952477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:11891448..11913613hg38UCSC Ensembl
Outerchr19:12002263..12024428hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3822166
hg1922166
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6685897
SamplesSSM034
Known GenesZNF69
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)esv2718186
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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