A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2602493



Internal ID8666051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:66268555..66270865hg38UCSC Ensembl
Outerchr17:64264673..64266983hg19UCSC Ensembl
Outerchr17:61695135..61697445hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg382311
hg192311
hg182311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5330545
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)esv2602493
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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