A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3366060



Internal ID15213037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:30643980..30644726hg38UCSC Ensembl
InnerchrX:30643980..30644726hg38UCSC Ensembl
OuterchrX:30643299..30645170hg38UCSC Ensembl
chrX:30662097..30662843hg19UCSC Ensembl
InnerchrX:30662097..30662843hg19UCSC Ensembl
OuterchrX:30661416..30663287hg19UCSC Ensembl
chrX:30572018..30572764hg18UCSC Ensembl
InnerchrX:30572018..30572764hg18UCSC Ensembl
OuterchrX:30571337..30573208hg18UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg38747
hg19747
hg18747
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652456
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3366060
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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