A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5273380



Internal ID8018429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:68431160..68432127hg38UCSC Ensembl
Outerchr17:66427301..66428268hg19UCSC Ensembl
Outerchr17:63938896..63939863hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38186
hg19186
hg18186
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2557973
Supporting Variants
SamplesNA18507
Known GenesPRKAR1A, WIPI1
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)essv5273380
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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