A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2427720



Internal ID3275780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:32986529..32989614hg19UCSC Ensembl
OuterchrX:32896450..32899535hg18UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg191858
hg181858
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv5172610
SamplesNA18507
Known GenesDMD
Method
Analysis
PlatformAB SOLiD 2BE Sequencing
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2427720
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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