A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5173117



Internal ID8264852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:68504883..68506424hg38UCSC Ensembl
Outerchr8:69417118..69418659hg19UCSC Ensembl
Outerchr8:69579672..69581213hg18UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg381542
hg191542
hg181542
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2587232
Supporting Variants
SamplesNA18507
Known GenesC8orf34
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)essv5173117
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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