A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2630000



Internal ID1660540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:31556392..31556521hg38UCSC Ensembl
chrX:31574509..31574638hg19UCSC Ensembl
chrX:31484430..31484559hg18UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg38130
hg19130
hg18130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5348070
SamplesNA18507
Known GenesDMD
MethodSequencing
AnalysisThe small_indels files contain insertions and deletions detected using the AB Small indel tool. After individual sequence tags from fragment and 2x25 mate pair data are matched to the reference, insertion of up to 3 bases and deletions of up to 11 bases are reported. Somewhat larger indels (12-500 bp) can be detected in the 2x50 mate pair data and these are included as well (Yoruban_med_ins_04_14.gff, Yoruban_med_ins_15_19.gff, Yoruban_med_del_12_500.gff). Small and medium indel files include a number of name=value attributes as described in the small indel tool manual.
PlatformNot specified
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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