A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673779



Internal ID9939884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:73974298..73976814hg38UCSC Ensembl
chrX:73194133..73196649hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg382517
hg192517
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5423257, essv5907928, essv6273864, essv6592551, essv5412307, essv5465036, essv6281773, essv5794848, essv5559344
SamplesHG00536, HG00589, NA18618, NA18964, NA19079, HG00464, NA18951, HG00525, HG00473
Known GenesJPX
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673779
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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