A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2624452



Internal ID8688010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:38509858..38511250hg38UCSC Ensembl
Outerchr20:37138501..37139893hg19UCSC Ensembl
Outerchr20:36571915..36573307hg18UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg381393
hg191393
hg181393
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5192158
SamplesNA18507
Known GenesRALGAPB
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)esv2624452
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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