A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675921



Internal ID9942026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:107098481..107099481hg38UCSC Ensembl
OuterchrX:107098324..107099634hg38UCSC Ensembl
InnerchrX:106341711..106342711hg19UCSC Ensembl
OuterchrX:106341554..106342864hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg381311
hg191311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6084213
SamplesNA18559
Known GenesRBM41
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675921
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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