A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6280569



Internal ID9601457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:81160993..81161932hg38UCSC Ensembl
chrX:80416492..80417431hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38940
hg19940
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2671958
Supporting Variants
SamplesNA19239
Known GenesHMGN5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6280569
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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