A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5372670



Internal ID8464405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:57968951..57969623hg38UCSC Ensembl
Outerchr17:56046312..56046984hg19UCSC Ensembl
Outerchr17:53401311..53401983hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38541
hg19541
hg18541
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2595030
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)essv5372670
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer