A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5202569



Internal ID8294304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:45179865..45181878hg38UCSC Ensembl
Outerchr17:43257232..43259245hg19UCSC Ensembl
Outerchr17:40613015..40615028hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg382014
hg192014
hg182014
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2512242
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)essv5202569
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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