A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697526



Internal ID15105877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:156023593..156028391hg38UCSC Ensembl
InnerchrX:156024593..156027391hg38UCSC Ensembl
OuterchrX:156022593..156029391hg38UCSC Ensembl
chrX:155253258..155258056hg19UCSC Ensembl
InnerchrX:155254258..155257056hg19UCSC Ensembl
OuterchrX:155252258..155259056hg19UCSC Ensembl
chrX:154906452..154911250hg18UCSC Ensembl
InnerchrX:154907452..154910250hg18UCSC Ensembl
OuterchrX:154905452..154912250hg18UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg384799
hg194799
hg184799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3329345
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697526
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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