A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6074722



Internal ID9645212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:12472895..12474199hg38UCSC Ensembl
chrX:12491014..12492318hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg381305
hg191305
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2675942
Supporting Variants
SamplesNA19377
Known GenesFRMPD4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6074722
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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