A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1247987



Internal ID12064424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:100853303..100853303hg38UCSC Ensembl
chrX:100108292..100108292hg19UCSC Ensembl
chrX:99994948..99994948hg18UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg3870
hg1970
hg1870
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3838498
SamplesHuRef
Known GenesNOX1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1247987
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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