A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5347076



Internal ID8438811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:17459885..17460550hg38UCSC Ensembl
Outerchr17:17363199..17363864hg19UCSC Ensembl
Outerchr17:17303924..17304589hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38625
hg19625
hg18625
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2441601
Supporting Variants
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)essv5347076
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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