A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5256795



Internal ID8348530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:103356884..103358432hg38UCSC Ensembl
Outerchr13:104009234..104010782hg19UCSC Ensembl
Outerchr13:102807235..102808783hg18UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg381549
hg191549
hg181549
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2567531
Supporting Variants
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)essv5256795
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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