A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8978562



Internal ID14921798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:103437061..103437069hg38UCSC Ensembl
InnerchrX:103437055..103437073hg38UCSC Ensembl
OuterchrX:103437049..103437081hg38UCSC Ensembl
chrX:102691989..102691997hg19UCSC Ensembl
InnerchrX:102691983..102692001hg19UCSC Ensembl
OuterchrX:102691977..102692009hg19UCSC Ensembl
chrX:102578645..102578653hg18UCSC Ensembl
InnerchrX:102578657..102578639hg18UCSC Ensembl
OuterchrX:102578633..102578665hg18UCSC Ensembl
CytobandXq22.2
Allele length
AssemblyAllele length
hg38271
hg19271
hg18271
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3325441
Supporting Variants
SamplesNA19147
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8978562
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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