A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2450491



Internal ID8514049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:83903867..83905693hg38UCSC Ensembl
Outerchr13:84478002..84479828hg19UCSC Ensembl
Outerchr13:83376003..83377829hg18UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg381827
hg191827
hg181827
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5180128
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)esv2450491
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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