A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8671606



Internal ID13663443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:130576000..130576276hg38UCSC Ensembl
InnerchrX:130576081..130576193hg38UCSC Ensembl
OuterchrX:130575917..130576357hg38UCSC Ensembl
chrX:129709974..129710250hg19UCSC Ensembl
InnerchrX:129710055..129710167hg19UCSC Ensembl
OuterchrX:129709891..129710331hg19UCSC Ensembl
chrX:129537655..129537931hg18UCSC Ensembl
InnerchrX:129537736..129537848hg18UCSC Ensembl
OuterchrX:129537572..129538012hg18UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38277
hg19277
hg18277
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3368814
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8671606
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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