A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2470452



Internal ID8187324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:46145055..46146542hg38UCSC Ensembl
Outerchr13:46719190..46720677hg19UCSC Ensembl
Outerchr13:45617191..45618678hg18UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg381488
hg191488
hg181488
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5216111
SamplesNA18507
Known GenesLCP1
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)esv2470452
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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