A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3860242



Internal ID11901629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:130090302..130091357hg38UCSC Ensembl
chrX:129224277..129225332hg19UCSC Ensembl
chrX:129051958..129053013hg18UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg381056
hg191056
hg181056
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1493190
Supporting Variants
SamplesHuRef
Known GenesELF4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3860242
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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