A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3329290



Internal ID15176277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:140514503..140514560hg38UCSC Ensembl
InnerchrX:140514502..140514561hg38UCSC Ensembl
OuterchrX:140514413..140514601hg38UCSC Ensembl
chrX:139596668..139596725hg19UCSC Ensembl
InnerchrX:139596667..139596726hg19UCSC Ensembl
OuterchrX:139596578..139596766hg19UCSC Ensembl
chrX:139424334..139424391hg18UCSC Ensembl
InnerchrX:139424392..139424333hg18UCSC Ensembl
OuterchrX:139424244..139424432hg18UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8701247
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3329290
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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