A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564729



Internal ID6689425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:219631246..219637492hg38UCSC Ensembl
Outerchr2:220495968..220502214hg19UCSC Ensembl
Outerchr2:220204212..220210458hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg386247
hg196247
hg186247
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1005415
Supporting Variants
SamplesHuRef
Known GenesSLC4A3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564729
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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