A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5264807



Internal ID8356542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:47498061..47499613hg38UCSC Ensembl
Outerchr13:48072196..48073748hg19UCSC Ensembl
Outerchr13:46970197..46971749hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg381553
hg191553
hg181553
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2598107
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)essv5264807
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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