A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564965



Internal ID7036065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:169243462..169255260hg38UCSC Ensembl
Outerchr2:170099972..170111770hg19UCSC Ensembl
Outerchr2:169808218..169820016hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3811799
hg1911799
hg1811799
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1010911
Supporting Variants
SamplesHuRef
Known GenesLRP2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564965
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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