A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658787



Internal ID9924892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:21339484..21343121hg38UCSC Ensembl
chrX:21357602..21361239hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg383638
hg193638
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5695709, essv6266131, essv5459287, essv6349306, essv6279725, essv5560186, essv5695721, essv6104846, essv5719353, essv6401808, essv6101555, essv6574442, essv6582972, essv6185337, essv6330885, essv6512397
SamplesNA19397, NA19355, NA19396, HG01366, NA18868, HG01440, NA19391, NA19682, NA19395, NA19434, NA19435, NA19444, NA19835, NA20289, NA19900, HG01191
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658787
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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