A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5468451



Internal ID9058877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:40096363..40101169hg38UCSC Ensembl
OuterchrX:40095992..40101539hg38UCSC Ensembl
InnerchrX:39955616..39960422hg19UCSC Ensembl
OuterchrX:39955245..39960792hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg385548
hg195548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv2672664
Supporting Variants
SamplesHG00705
Known GenesBCOR
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5468451
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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