A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3571470



Internal ID7042852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:95095428..95095428hg38UCSC Ensembl
chr11:94828592..94828592hg19UCSC Ensembl
chr11:94468240..94468240hg18UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg3866
hg1966
hg1866
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv992223
Supporting Variants
SamplesHuRef
Known GenesENDOD1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3571470
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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