A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5522108



Internal ID8782597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:1293887..1294073hg38UCSC Ensembl
OuterchrX:1293850..1294123hg38UCSC Ensembl
InnerchrX:1412780..1412966hg19UCSC Ensembl
OuterchrX:1412743..1413016hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2671552
Supporting Variants
SamplesHG00185
Known GenesCSF2RA, MIR3690, MIR3690-2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5522108
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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