A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563904



Internal ID7035004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:216223849..216229431hg38UCSC Ensembl
Outerchr2:217088572..217094154hg19UCSC Ensembl
Outerchr2:216796817..216802399hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg385583
hg195583
hg185583
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv993613
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563904
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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