A curated catalogue of human genomic structural variation




Variant Details

Variant: esv989786



Internal ID6725754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:17663469..17667844hg38UCSC Ensembl
OuterchrX:17681589..17685964hg19UCSC Ensembl
OuterchrX:17591510..17595885hg18UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg382674
hg192674
hg182674
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564543
SamplesHuRef
Known GenesNHS
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv989786
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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