A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304994



Internal ID15151942
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 StatusM
Merged Variants
Supporting Variantsessv7831682, essv7793697, essv7833035, essv7817153, essv7833327, essv7787380, essv7796389, essv7774528, essv7788919, essv7799196, essv7828454, essv7801722, essv7801159, essv7790818, essv7799717, essv7825758, essv7792486, essv7826283, essv7782226, essv7827909, essv7806537, essv7785462, essv7788103
SamplesNA19141, NA12717, NA11830, NA18861, NA18563, NA18550, NA07347, NA18520, NA19239, NA11993, NA12489, NA12003, NA18537, NA11840, NA12249, NA19099, NA18523, NA18608, NA19240, NA07051, NA06986, NA18552, NA07000
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304994
Frequency
Sample Size185
Observed Gain23
Observed Loss0
Observed Complex0
Frequencyn/a


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