A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3450158



Internal ID14950420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:53054545..53057043hg38UCSC Ensembl
InnerchrX:53055545..53056043hg38UCSC Ensembl
OuterchrX:53053545..53058043hg38UCSC Ensembl
chrX:53083727..53086225hg19UCSC Ensembl
InnerchrX:53084727..53085225hg19UCSC Ensembl
OuterchrX:53082727..53087225hg19UCSC Ensembl
chrX:53100452..53102950hg18UCSC Ensembl
InnerchrX:53101452..53101950hg18UCSC Ensembl
OuterchrX:53099452..53103950hg18UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg382499
hg192499
hg182499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8697611
SamplesNA19240
Known GenesGPR173
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3450158
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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