A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8978234



Internal ID14841743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:36334539..36334596hg38UCSC Ensembl
InnerchrX:36334548..36334587hg38UCSC Ensembl
OuterchrX:36334491..36334644hg38UCSC Ensembl
chrX:36352654..36352711hg19UCSC Ensembl
InnerchrX:36352663..36352702hg19UCSC Ensembl
OuterchrX:36352606..36352759hg19UCSC Ensembl
chrX:36262575..36262632hg18UCSC Ensembl
InnerchrX:36262623..36262584hg18UCSC Ensembl
OuterchrX:36262527..36262680hg18UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg38278
hg19278
hg18278
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3432080
Supporting Variants
SamplesNA19102
Known GenesCXorf30
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8978234
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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