A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3330943



Internal ID14831218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:18257086..18257101hg38UCSC Ensembl
InnerchrX:18257060..18257127hg38UCSC Ensembl
OuterchrX:18257045..18257142hg38UCSC Ensembl
chrX:18275206..18275221hg19UCSC Ensembl
InnerchrX:18275180..18275247hg19UCSC Ensembl
OuterchrX:18275165..18275262hg19UCSC Ensembl
chrX:18185127..18185142hg18UCSC Ensembl
InnerchrX:18185168..18185101hg18UCSC Ensembl
OuterchrX:18185086..18185183hg18UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7866269
SamplesNA12005
Known GenesSCML2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3330943
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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