A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675498



Internal ID9941603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:53969582..53971887hg38UCSC Ensembl
chrX:53996015..53998320hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg382306
hg192306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5776193, essv5871747, essv6047968, essv5805545
SamplesNA18560, NA19002, NA18539, NA18555
Known GenesPHF8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675498
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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