A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671998



Internal ID9591417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:48191655..48407456hg38UCSC Ensembl
OuterchrX:48191621..48407491hg38UCSC Ensembl
InnerchrX:48051091..48266899hg19UCSC Ensembl
OuterchrX:48051057..48266934hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38215871
hg19215878
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5992465
SamplesNA20532
Known GenesSSX1, SSX3, SSX4, SSX4B, SSX5, SSX9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671998
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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