A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4174577



Internal ID11110429
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1282137
Supporting Variants
SamplesHuRef
Known GenesTAB3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4174577
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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