A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667233



Internal ID9933338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:101165040..101166569hg38UCSC Ensembl
chrX:100420029..100421558hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg381530
hg191530
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5996606, essv6232783
SamplesHG00577, HG00584
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667233
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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