A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3626767



Internal ID7013597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:70545422..70547591hg38UCSC Ensembl
Innerchr11:70545437..70547577hg38UCSC Ensembl
Outerchr11:70545408..70547606hg38UCSC Ensembl
chr11:70391527..70393696hg19UCSC Ensembl
Innerchr11:70391542..70393682hg19UCSC Ensembl
Outerchr11:70391513..70393711hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg382170
hg192170
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14207914
SamplesNA19310
Known GenesSHANK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3626767
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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