A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3380907



Internal ID14881182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:15422334..15422344hg38UCSC Ensembl
InnerchrX:15422314..15422364hg38UCSC Ensembl
OuterchrX:15422304..15422374hg38UCSC Ensembl
chrX:15440457..15440467hg19UCSC Ensembl
InnerchrX:15440437..15440487hg19UCSC Ensembl
OuterchrX:15440427..15440497hg19UCSC Ensembl
chrX:15350378..15350388hg18UCSC Ensembl
InnerchrX:15350408..15350358hg18UCSC Ensembl
OuterchrX:15350348..15350418hg18UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7866267
SamplesNA12005
Known GenesPIR, PIR-FIGF
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3380907
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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