A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673239



Internal ID9939344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:101087261..101093597hg38UCSC Ensembl
OuterchrX:101087224..101093647hg38UCSC Ensembl
InnerchrX:100342250..100348586hg19UCSC Ensembl
OuterchrX:100342213..100348636hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg386424
hg196424
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6404259
SamplesNA18986
Known GenesTMEM35
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673239
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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