A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3570471



Internal ID6695167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:44074749..44074749hg38UCSC Ensembl
chr11:44096299..44096299hg19UCSC Ensembl
chr11:44052875..44052875hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3868
hg1968
hg1868
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv995967
Supporting Variants
SamplesHuRef
Known GenesACCS
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3570471
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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