A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2470e1



Internal ID6310268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:119401425..119582949hg19UCSC Ensembl
chrX:119285453..119466977hg18UCSC Ensembl
chrX:119183307..119364831hg17UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Complex
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsesv496, essv12636
SamplesNA18500
Known GenesATP1B4, FAM70A, LAMP2
Method
Analysis
Platform
Comments
ReferenceRedon et al 2006
Pubmed ID17122850
Accession Number(s)dgv2470e1
Frequency
Sample Size271
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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