A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664900



Internal ID9931005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:154406746..154407969hg38UCSC Ensembl
OuterchrX:154406709..154408019hg38UCSC Ensembl
InnerchrX:153635087..153636305hg19UCSC Ensembl
OuterchrX:153635050..153636355hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg381311
hg191306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6377845
SamplesNA18988
Known GenesDNASE1L1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664900
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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