A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675226



Internal ID9941331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:93931812..93932988hg38UCSC Ensembl
chrX:93186811..93187987hg19UCSC Ensembl
CytobandXq21.32
Allele length
AssemblyAllele length
hg381177
hg191177
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5554874, essv5657166, essv6478760, essv6366029, essv5402860, essv5672609, essv5442003
SamplesNA18508, NA19313, NA19137, NA19235, NA19436, NA19375, NA19360
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675226
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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