A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5263564



Internal ID8355299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:133901725..133904170hg38UCSC Ensembl
Outerchr5:133237416..133239861hg19UCSC Ensembl
Outerchr5:133265315..133267760hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg382446
hg192446
hg182446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2452205
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)essv5263564
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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