A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669195



Internal ID9588614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:68603983..68737974hg38UCSC Ensembl
chrX:67823825..67957816hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38133992
hg19133992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5479451, essv6222003, essv6552522, essv6498164, essv5989813
SamplesNA19397, NA18917, NA19395, NA19375, NA19376
Known GenesSTARD8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669195
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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