A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8978011



Internal ID14464055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:14899113..14899127hg38UCSC Ensembl
InnerchrX:14899106..14899131hg38UCSC Ensembl
OuterchrX:14899092..14899145hg38UCSC Ensembl
chrX:14917235..14917249hg19UCSC Ensembl
InnerchrX:14917228..14917253hg19UCSC Ensembl
OuterchrX:14917214..14917267hg19UCSC Ensembl
chrX:14827156..14827170hg18UCSC Ensembl
InnerchrX:14827174..14827149hg18UCSC Ensembl
OuterchrX:14827135..14827188hg18UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38243
hg19243
hg18243
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3372386
Supporting Variants
SamplesNA19093
Known GenesMOSPD2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8978011
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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