A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5419753



Internal ID9078514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:18260681..18262768hg38UCSC Ensembl
OuterchrX:18260644..18262818hg38UCSC Ensembl
InnerchrX:18278801..18280888hg19UCSC Ensembl
OuterchrX:18278764..18280938hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg382175
hg192175
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2663102
Supporting Variants
SamplesHG01052
Known GenesSCML2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5419753
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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