A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718746



Internal ID10302382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50699717..50700123hg38UCSC Ensembl
Outerchr19:51202974..51203380hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38407
hg19407
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6925402, essv6932997, essv6713975, essv6721715, essv6941471, essv6967533
SamplesSSM027, SSM042, SSM018, SSM044, SSM020, SSM022
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)esv2718746
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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