A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5208040



Internal ID8299775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:39708474..39709828hg38UCSC Ensembl
Outerchr20:38337116..38338470hg19UCSC Ensembl
Outerchr20:37770530..37771884hg18UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg381355
hg191355
hg181355
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2499407
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)essv5208040
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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