A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1282137



Internal ID12098573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:30868514..30868575hg38UCSC Ensembl
chrX:30886631..30886692hg19UCSC Ensembl
chrX:30796552..30796613hg18UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg3862
hg1962
hg1862
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4174577
SamplesHuRef
Known GenesTAB3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1282137
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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