A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3382043



Internal ID15229015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:22018413..22022711hg38UCSC Ensembl
InnerchrX:22019413..22021711hg38UCSC Ensembl
OuterchrX:22017413..22023711hg38UCSC Ensembl
chrX:22036531..22040829hg19UCSC Ensembl
InnerchrX:22037531..22039829hg19UCSC Ensembl
OuterchrX:22035531..22041829hg19UCSC Ensembl
chrX:21946452..21950750hg18UCSC Ensembl
InnerchrX:21947452..21949750hg18UCSC Ensembl
OuterchrX:21945452..21951750hg18UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg384299
hg194299
hg184299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8697535
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3382043
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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