A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3585988



Internal ID7057370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:73578770..73578770hg38UCSC Ensembl
chr7:72993100..72993100hg19UCSC Ensembl
chr7:72631036..72631036hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38270
hg19270
hg18270
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1003729
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3585988
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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