A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718503



Internal ID9952794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:36349854..36356362hg38UCSC Ensembl
Outerchr19:36840756..36847264hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg386509
hg196509
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6668734, essv6764018, essv6913692, essv6812963, essv6761672, essv6666467
SamplesSSM061, SSM062, SSM029, SSM030, SSM015, SSM076
Known GenesZFP14
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)esv2718503
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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