A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309908



Internal ID15156859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:140771263..140771264hg38UCSC Ensembl
InnerchrX:140771247..140771280hg38UCSC Ensembl
OuterchrX:140771246..140771281hg38UCSC Ensembl
chrX:139853428..139853429hg19UCSC Ensembl
InnerchrX:139853412..139853445hg19UCSC Ensembl
OuterchrX:139853411..139853446hg19UCSC Ensembl
chrX:139681094..139681095hg18UCSC Ensembl
InnerchrX:139681111..139681078hg18UCSC Ensembl
OuterchrX:139681077..139681112hg18UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg38265
hg19265
hg18265
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7839900, essv7841494, essv7842310
SamplesNA19238, NA12878, NA12892
Known GenesLINC00632
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309908
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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