A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2625043



Internal ID8688601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:104508531..104510177hg38UCSC Ensembl
Outerchr13:105160882..105162528hg19UCSC Ensembl
Outerchr13:103958883..103960529hg18UCSC Ensembl
Cytoband13q33.2
Allele length
AssemblyAllele length
hg381647
hg191647
hg181647
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5319747
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)esv2625043
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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