A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5175290



Internal ID8267025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:53998934..54000399hg38UCSC Ensembl
Outerchr8:54911494..54912959hg19UCSC Ensembl
Outerchr8:55074047..55075512hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg381466
hg191466
hg181466
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2487551
Supporting Variants
SamplesNA18507
Known GenesTCEA1
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)essv5175290
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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