A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1005217



Internal ID7070313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:62506452..62700763hg38UCSC Ensembl
InnerchrX:61725922..61920233hg19UCSC Ensembl
InnerchrX:61642647..61836958hg18UCSC Ensembl
CytobandXq11.1
Allele length
AssemblyAllele length
hg38194312
hg19194312
hg18194312
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586492
SamplesHuRef
Known Genes
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1005217
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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