A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5355889



Internal ID8447624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:177067705..177070214hg38UCSC Ensembl
Outerchr5:176494706..176497215hg19UCSC Ensembl
Outerchr5:176427312..176429821hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg382510
hg192510
hg182510
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2606881
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)essv5355889
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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