A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659975



Internal ID9926080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:125100295..125102451hg38UCSC Ensembl
chrX:124234144..124236300hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg382157
hg192157
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5815968, essv6427773, essv6031475, essv5901920, essv6369809
SamplesNA19313, HG01390, HG01108, NA19472, NA19346
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659975
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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