A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664433



Internal ID9583852
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5657037, essv6446393, essv6382881, essv5908319
SamplesNA18519, NA18573, NA06986, NA18577
Known GenesFAM47B, TMEM47
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664433
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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