A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422345



Internal ID7906442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:6361478..6791716hg38UCSC Ensembl
InnerchrX:6279519..6709757hg19UCSC Ensembl
InnerchrX:6289519..6719757hg18UCSC Ensembl
InnerchrX:6139255..6569493hg17UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38430239
hg19430239
hg18430239
hg17430239
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161334
SamplesND03664
Known GenesMIR4770, VCX3A
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422345
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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