A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697607



Internal ID15063118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49596005..49599603hg38UCSC Ensembl
InnerchrX:49597005..49598603hg38UCSC Ensembl
OuterchrX:49595005..49600603hg38UCSC Ensembl
chrX:49360608..49364206hg19UCSC Ensembl
InnerchrX:49361608..49363206hg19UCSC Ensembl
OuterchrX:49359608..49365206hg19UCSC Ensembl
chrX:49247552..49251150hg18UCSC Ensembl
InnerchrX:49248552..49250150hg18UCSC Ensembl
OuterchrX:49246552..49252150hg18UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg383599
hg193599
hg183599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3392575
Supporting Variants
SamplesNA19239
Known GenesGAGE1, GAGE2A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697607
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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