A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7828454



Internal ID13165027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:5863702..5863703hg38UCSC Ensembl
InnerchrX:5863686..5863719hg38UCSC Ensembl
OuterchrX:5863685..5863720hg38UCSC Ensembl
chrX:5781743..5781744hg19UCSC Ensembl
InnerchrX:5781727..5781760hg19UCSC Ensembl
OuterchrX:5781726..5781761hg19UCSC Ensembl
chrX:5791743..5791744hg18UCSC Ensembl
InnerchrX:5791760..5791727hg18UCSC Ensembl
OuterchrX:5791726..5791761hg18UCSC Ensembl
CytobandXp22.32
Allele length
AssemblyAllele length
hg38294
hg19294
hg18294
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3304994
Supporting Variants
SamplesNA11840
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7828454
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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