A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2618405



Internal ID8681963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:35033381..35034997hg38UCSC Ensembl
Outerchr20:33621184..33622800hg19UCSC Ensembl
Outerchr20:33084845..33086461hg18UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg381617
hg191617
hg181617
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5182975
SamplesNA18507
Known GenesTRPC4AP
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)esv2618405
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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