A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1403e199



Internal ID20124705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:143514744..143720811hg38UCSC Ensembl
chrX:142602573..142803905hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg38206068
hg19201333
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2656778, esv2663375
SamplesHG00442, HG01173, NA19397, NA19359, NA19057, NA18596, NA19377, NA19443, NA12155, NA20806, NA18550, NA18982, HG00634, NA19088, NA19054, HG00683, HG00325, NA18557, NA18908, NA19451, NA18638, HG01384, NA19347, NA19455, HG00436, NA19461, NA19059, NA19009, NA18555, NA18536, HG00375, NA19010, NA20790, NA19835, HG00607, NA19360, HG01489, NA18631, NA20510, HG00310, NA18983, NA19004, NA18624
Known GenesSLITRK4, SPANXN2, SPANXN3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv1403e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


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