A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2545815



Internal ID8609373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:80274368..80275182hg38UCSC Ensembl
Outerchr17:78248167..78248981hg19UCSC Ensembl
Outerchr17:75862762..75863576hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38481
hg19481
hg18481
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5390461
SamplesNA18507
Known GenesRNF213
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)esv2545815
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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