A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4207988



Internal ID11490526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:47090914..47090914hg38UCSC Ensembl
chrX:46950313..46950313hg19UCSC Ensembl
chrX:46835257..46835257hg18UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1734378
Supporting Variants
SamplesHuRef
Known GenesRGN
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4207988
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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