A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5543872



Internal ID9824246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:44752492..44754440hg38UCSC Ensembl
OuterchrX:44752455..44754490hg38UCSC Ensembl
InnerchrX:44611738..44613686hg19UCSC Ensembl
OuterchrX:44611701..44613736hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg382036
hg192036
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2662238
Supporting Variants
SamplesNA20291
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5543872
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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