A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2466799



Internal ID8530357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:100092981..100094614hg38UCSC Ensembl
Outerchr8:101105209..101106842hg19UCSC Ensembl
Outerchr8:101174385..101176018hg18UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg381634
hg191634
hg181634
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5381780
SamplesNA18507
Known GenesRGS22
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)esv2466799
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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