A curated catalogue of human genomic structural variation




Variant Details

Variant: esv988505



Internal ID7060452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:137313499..137316327hg38UCSC Ensembl
OuterchrX:136395658..136398486hg19UCSC Ensembl
OuterchrX:136223324..136226152hg18UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg382220
hg192220
hg182220
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565413
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv988505
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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