A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5437769



Internal ID8415172
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 StatusS
Merged Variantsesv2668671
Supporting Variants
SamplesHG00232
Known GenesMAP7D3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5437769
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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