A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5489982



Internal ID9824528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:123816716..123819972hg38UCSC Ensembl
OuterchrX:123816345..123820342hg38UCSC Ensembl
InnerchrX:122950566..122953822hg19UCSC Ensembl
OuterchrX:122950195..122954192hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg383998
hg193998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2678027
Supporting Variants
SamplesNA20291
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5489982
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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