A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307491



Internal ID15154439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:74390701..74390702hg38UCSC Ensembl
InnerchrX:74390625..74390778hg38UCSC Ensembl
OuterchrX:74390624..74390779hg38UCSC Ensembl
chrX:73610536..73610537hg19UCSC Ensembl
InnerchrX:73610460..73610613hg19UCSC Ensembl
OuterchrX:73610459..73610614hg19UCSC Ensembl
chrX:73527261..73527262hg18UCSC Ensembl
InnerchrX:73527338..73527185hg18UCSC Ensembl
OuterchrX:73527184..73527339hg18UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7761018, essv7754564, essv7751063, essv7755391, essv7747844, essv7760734, essv7753868, essv7750782, essv7741000
SamplesNA11995, NA18861, NA11931, NA07346, NA18948, NA19225, NA19108, NA18517, NA18965
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307491
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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