A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697626



Internal ID15106438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:58456194..58477892hg38UCSC Ensembl
InnerchrX:58457194..58476892hg38UCSC Ensembl
OuterchrX:58455194..58478892hg38UCSC Ensembl
chrX:58482627..58504325hg19UCSC Ensembl
InnerchrX:58483627..58503325hg19UCSC Ensembl
OuterchrX:58481627..58505325hg19UCSC Ensembl
chrX:58499352..58521050hg18UCSC Ensembl
InnerchrX:58500352..58520050hg18UCSC Ensembl
OuterchrX:58498352..58522050hg18UCSC Ensembl
CytobandXp11.1
Allele length
AssemblyAllele length
hg3821699
hg1921699
hg1821699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3365247
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697626
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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