A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678503



Internal ID9944608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:74297092..74298564hg38UCSC Ensembl
chrX:73516927..73518399hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg381473
hg191473
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5555201, essv6066314, essv5583860, essv5804006
SamplesNA19359, HG01390, NA19375, HG01055
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678503
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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