A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2546222



Internal ID8263095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:34653534..34657273hg38UCSC Ensembl
Outerchr20:33241338..33245077hg19UCSC Ensembl
Outerchr20:32704999..32708738hg18UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg383740
hg193740
hg183740
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5259885
SamplesNA18507
Known GenesPIGU
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)esv2546222
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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