A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2572086



Internal ID8635644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:27209257..27214330hg38UCSC Ensembl
Outerchr17:25536283..25541356hg19UCSC Ensembl
Outerchr17:22560410..22565483hg18UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg385074
hg195074
hg185074
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5363548
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)esv2572086
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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