A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3849183



Internal ID11912688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:118647967..118647967hg38UCSC Ensembl
chrX:117781930..117781930hg19UCSC Ensembl
chrX:117665958..117665958hg18UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3868
hg1968
hg1868
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1557323
Supporting Variants
SamplesHuRef
Known GenesDOCK11
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3849183
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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