A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659816



Internal ID9925921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:129186575..129193520hg38UCSC Ensembl
OuterchrX:129186402..129193709hg38UCSC Ensembl
InnerchrX:128320552..128327497hg19UCSC Ensembl
OuterchrX:128320379..128327686hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg387308
hg197308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5438758, essv5883120, essv6050973
SamplesHG00183, HG00190, HG00171
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659816
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