A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718736



Internal ID10302372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50471649..50471804hg38UCSC Ensembl
Outerchr19:50974906..50975061hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38156
hg19156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6780536, essv6874653, essv6666513
SamplesSSM011, SSM029, SSM067
Known GenesFAM71E1
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)esv2718736
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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