A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2630000



Internal ID3468496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:31574509..31574638hg19UCSC Ensembl
chrX:31484430..31484559hg18UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg19130
hg18130
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv5348070
SamplesNA18507
Known GenesDMD
Method
Analysis
PlatformAB SOLiD 2BE Sequencing
CommentsoriginalFile=Yoruban_med_del_12_500.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2630000
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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