A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5693609



Internal ID8671012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:143514744..143718019hg38UCSC Ensembl
chrX:142602573..142801113hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg38203276
hg19198541
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2663375
Supporting Variants
SamplesNA20790
Known GenesSLITRK4, SPANXN2, SPANXN3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5693609
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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