A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7754564



Internal ID14375222
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 StatusS
Merged Variantsesv3307491
Supporting Variants
SamplesNA18861
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7754564
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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