A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697530



Internal ID15062763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:1610659..1619357hg38UCSC Ensembl
InnerchrX:1611659..1618357hg38UCSC Ensembl
OuterchrX:1609659..1620357hg38UCSC Ensembl
chrX:1729552..1738250hg19UCSC Ensembl
InnerchrX:1730552..1737250hg19UCSC Ensembl
OuterchrX:1728552..1739250hg19UCSC Ensembl
chrX:1689552..1698250hg18UCSC Ensembl
InnerchrX:1690552..1697250hg18UCSC Ensembl
OuterchrX:1688552..1699250hg18UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg388699
hg198699
hg188699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3324075
Supporting Variants
SamplesNA19239
Known GenesASMT
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697530
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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