A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673799



Internal ID9593218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:72189046..72196415hg38UCSC Ensembl
chrX:71408896..71416265hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg387370
hg197370
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6503600, essv6048504, essv6435121, essv6263347, essv5676131, essv6225901
SamplesHG01052, NA19197, NA19172, NA20344, NA19213, HG01377
Known GenesPIN4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673799
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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