A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5341855



Internal ID8433590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:73500294..73501884hg38UCSC Ensembl
Outerchr13:74074431..74076021hg19UCSC Ensembl
Outerchr13:72972432..72974022hg18UCSC Ensembl
Cytoband13q22.1
Allele length
AssemblyAllele length
hg381591
hg191591
hg181591
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2578701
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)essv5341855
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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