A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666429



Internal ID9932534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:1368775..1426220hg38UCSC Ensembl
chrX:1487668..1545113hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3857446
hg1957446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6499394, essv6394386, essv6526129, essv6206458, essv6408252, essv6502047, essv6100898
SamplesHG01441, NA20805, NA18519, HG01492, HG01353, NA19334, NA20807
Known GenesASMTL, ASMTL-AS1, IL3RA, SLC25A6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666429
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer