A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6394386



Internal ID9371789
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 Flag1
Merged StatusS
Merged Variantsesv2666429
Supporting Variants
SamplesNA20805
Known GenesASMTL, ASMTL-AS1, IL3RA, SLC25A6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6394386
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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