A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665236



Internal ID9584655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:155551519..155556252hg38UCSC Ensembl
chrX:154781180..154785913hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg384734
hg194734
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5839136, essv6180072, essv6323410
SamplesNA19700, NA19359, NA19371
Known GenesTMLHE
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665236
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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