A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2539030



Internal ID8255902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:49376617..49380357hg38UCSC Ensembl
Outerchr13:49950753..49954493hg19UCSC Ensembl
Outerchr13:48848754..48852494hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg383741
hg193741
hg183741
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5178139
SamplesNA18507
Known GenesCAB39L
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)esv2539030
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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