A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3376146



Internal ID14876411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:155282329..155282341hg38UCSC Ensembl
InnerchrX:155282320..155282347hg38UCSC Ensembl
OuterchrX:155282308..155282359hg38UCSC Ensembl
chrX:154511618..154511630hg19UCSC Ensembl
InnerchrX:154511609..154511636hg19UCSC Ensembl
OuterchrX:154511597..154511648hg19UCSC Ensembl
chrX:154164812..154164824hg18UCSC Ensembl
InnerchrX:154164830..154164803hg18UCSC Ensembl
OuterchrX:154164791..154164842hg18UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38241
hg19241
hg18241
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8677568, essv8677567
SamplesNA19239, NA19240
Known GenesCLIC2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3376146
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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