A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672181



Internal ID9938286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:118842675..118845472hg38UCSC Ensembl
OuterchrX:118842518..118845631hg38UCSC Ensembl
InnerchrX:117976638..117979435hg19UCSC Ensembl
OuterchrX:117976481..117979594hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg383114
hg193114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6249876, essv6406265, essv6568306, essv6207452, essv6363373
SamplesNA18520, HG01136, NA19712, HG01108, NA19376
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672181
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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