A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3579495



Internal ID6704191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:131392221..131392221hg38UCSC Ensembl
chr11:131262116..131262116hg19UCSC Ensembl
chr11:130767326..130767326hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3876
hg1976
hg1876
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1006260
Supporting Variants
SamplesHuRef
Known GenesNTM
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3579495
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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