A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678233



Internal ID9944338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:2362555..2386338hg38UCSC Ensembl
OuterchrX:2362398..2386491hg38UCSC Ensembl
InnerchrX:2280596..2304379hg19UCSC Ensembl
OuterchrX:2280439..2304532hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3824094
hg1924094
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6504143, essv5919021, essv6189604
SamplesHG00701, NA18566, NA18631
Known GenesDHRSX
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678233
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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