A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3450031



Internal ID14950293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49557905..49558903hg38UCSC Ensembl
InnerchrX:49557904..49558904hg38UCSC Ensembl
OuterchrX:49556905..49559903hg38UCSC Ensembl
chrX:49322508..49323506hg19UCSC Ensembl
InnerchrX:49322507..49323507hg19UCSC Ensembl
OuterchrX:49321508..49324506hg19UCSC Ensembl
chrX:49209452..49210450hg18UCSC Ensembl
InnerchrX:49210451..49209451hg18UCSC Ensembl
OuterchrX:49208452..49211450hg18UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8697602
SamplesNA19239
Known GenesGAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12G, GAGE12H
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3450031
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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