A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663102



Internal ID9929207
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 StatusM
Merged Variants
Supporting Variantsessv5897796, essv5491242, essv5465288, essv5419753, essv5475746
SamplesHG01052, NA19663, NA19654, NA19434, NA19311
Known GenesSCML2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663102
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer