A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2563885



Internal ID8627444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:138282006..138283754hg38UCSC Ensembl
OuterchrX:137364165..137365913hg19UCSC Ensembl
OuterchrX:137191831..137193579hg18UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg381749
hg191749
hg181749
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5237428
SamplesNA18507
Known Genes
MethodSequencing
AnalysisLarger insertions and deletions are found by looking at variation in mate pair distances in the 2x50 mate pair libraries. These data are included in separate files for each of three coverage values: 2.2x, 4.0x, 5.6x, and 8.4x
PlatformNot specified
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2563885
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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