A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14207914



Internal ID5886152
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626767
Supporting Variants
SamplesNA19310
Known GenesSHANK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14207914
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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