A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5315526



Internal ID8407261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:36641723..36642310hg38UCSC Ensembl
Outerchr20:35270126..35270713hg19UCSC Ensembl
Outerchr20:34703540..34704127hg18UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38560
hg19560
hg18560
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2554197
Supporting Variants
SamplesNA18507
Known GenesSLA2
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)essv5315526
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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