A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5356473



Internal ID8448208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:19764611..19771970hg38UCSC Ensembl
Outerchr6:19764842..19772201hg19UCSC Ensembl
Outerchr6:19872821..19880180hg18UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg387360
hg197360
hg187360
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2581386
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)essv5356473
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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