A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2580955



Internal ID8297827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:50022277..50023576hg38UCSC Ensembl
Outerchr13:50596413..50597712hg19UCSC Ensembl
Outerchr13:49494414..49495713hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg381300
hg191300
hg181300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5204169
SamplesNA18507
Known GenesDLEU2
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)esv2580955
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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