A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668671



Internal ID9588090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:136217037..136219978hg38UCSC Ensembl
chrX:135299196..135302137hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg382942
hg192942
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5424656, essv5438930, essv5437769
SamplesHG00367, HG00232, HG00239
Known GenesMAP7D3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668671
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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