A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8677502



Internal ID15025259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:113633698..113634063hg38UCSC Ensembl
InnerchrX:113633704..113633723hg38UCSC Ensembl
OuterchrX:113633670..113634091hg38UCSC Ensembl
chrX:112876985..112877350hg19UCSC Ensembl
InnerchrX:112876991..112877010hg19UCSC Ensembl
OuterchrX:112876957..112877378hg19UCSC Ensembl
chrX:112763645..112763679hg18UCSC Ensembl
InnerchrX:112763670..112763651hg18UCSC Ensembl
OuterchrX:112763617..112763707hg18UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38275
hg19275
hg18275
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3444122
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8677502
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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