A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3408899



Internal ID15255860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:41933485..41933495hg38UCSC Ensembl
InnerchrX:41933465..41933515hg38UCSC Ensembl
OuterchrX:41933455..41933525hg38UCSC Ensembl
chrX:41792738..41792748hg19UCSC Ensembl
InnerchrX:41792718..41792768hg19UCSC Ensembl
OuterchrX:41792708..41792778hg19UCSC Ensembl
chrX:41677682..41677692hg18UCSC Ensembl
InnerchrX:41677712..41677662hg18UCSC Ensembl
OuterchrX:41677652..41677722hg18UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7866273
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3408899
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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