A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4314219



Internal ID11250071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:14631933..14631933hg38UCSC Ensembl
chrX:14650055..14650055hg19UCSC Ensembl
chrX:14559976..14559976hg18UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38264
hg19264
hg18264
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1737273
Supporting Variants
SamplesHuRef
Known GenesGLRA2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4314219
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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