A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1216901



Internal ID12033338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:150824285..150824480hg38UCSC Ensembl
chrX:149992758..149992953hg19UCSC Ensembl
chrX:149743416..149743611hg18UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38196
hg19196
hg18196
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4234851
SamplesHuRef
Known GenesCD99L2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1216901
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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