A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5325167



Internal ID8416902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:50155936..50157655hg38UCSC Ensembl
Outerchr20:48772473..48774192hg19UCSC Ensembl
Outerchr20:48205880..48207599hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg381720
hg191720
hg181720
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2534142
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)essv5325167
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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