A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670040



Internal ID2903127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:46935144..46936229hg38UCSC Ensembl
chrX:46794579..46795664hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg381086
hg191086
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5546848, essv6184862, essv6243048, essv5672406, essv5493657
SamplesNA19819, NA19247, NA19313, NA19921, NA19391
Known GenesJADE3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670040
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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