A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697533



Internal ID15062773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:1627259..1630657hg38UCSC Ensembl
InnerchrX:1628259..1629657hg38UCSC Ensembl
OuterchrX:1626259..1631657hg38UCSC Ensembl
chrX:1746152..1749550hg19UCSC Ensembl
InnerchrX:1747152..1748550hg19UCSC Ensembl
OuterchrX:1745152..1750550hg19UCSC Ensembl
chrX:1706152..1709550hg18UCSC Ensembl
InnerchrX:1707152..1708550hg18UCSC Ensembl
OuterchrX:1705152..1710550hg18UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg383399
hg193399
hg183399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3412876
Supporting Variants
SamplesNA19239
Known GenesASMT
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697533
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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