A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6941470



Internal ID10049517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50678781..50679051hg38UCSC Ensembl
Outerchr19:51182038..51182308hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718744, esv2718745
Supporting Variants
SamplesSSM022
Known GenesSHANK1
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)essv6941470
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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