A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3334428



Internal ID15181416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49326848..49330428hg38UCSC Ensembl
InnerchrX:49327848..49329427hg38UCSC Ensembl
OuterchrX:49325845..49331428hg38UCSC Ensembl
chrX:49183308..49186906hg19UCSC Ensembl
InnerchrX:49184308..49185906hg19UCSC Ensembl
OuterchrX:49182308..49187906hg19UCSC Ensembl
chrX:49070252..49073850hg18UCSC Ensembl
InnerchrX:49071252..49072850hg18UCSC Ensembl
OuterchrX:49069252..49074850hg18UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg383581
hg193599
hg183599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8697577
SamplesNA19239
Known GenesGAGE12J
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3334428
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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