A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664441



Internal ID9930546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:142388728..143352799hg38UCSC Ensembl
chrX:141476514..142440592hg19UCSC Ensembl
CytobandXq27.2
Allele length
AssemblyAllele length
hg38964072
hg19964079
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6534824, essv6417183, essv5751543, essv5795676
SamplesHG01140, HG00683, HG00533, HG00613
Known GenesSPANXN4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664441
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer