A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5657037



Internal ID8634440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:34458727..34946283hg38UCSC Ensembl
chrX:34476844..34964400hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg38487557
hg19487557
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2664433
Supporting Variants
SamplesNA18577
Known GenesFAM47B, TMEM47
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5657037
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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