A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697449



Internal ID15062347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:115843263..115850861hg38UCSC Ensembl
InnerchrX:115844263..115849861hg38UCSC Ensembl
OuterchrX:115842263..115851861hg38UCSC Ensembl
chrX:114959596..114967194hg19UCSC Ensembl
InnerchrX:114960596..114966194hg19UCSC Ensembl
OuterchrX:114958596..114968194hg19UCSC Ensembl
chrX:114865852..114873450hg18UCSC Ensembl
InnerchrX:114866852..114872450hg18UCSC Ensembl
OuterchrX:114864852..114874450hg18UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg387599
hg197599
hg187599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3388307
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697449
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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