A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2447133



Internal ID8164005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:1570318..1572341hg38UCSC Ensembl
Outerchr8:1518484..1520507hg19UCSC Ensembl
Outerchr8:1505891..1507914hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg382024
hg192024
hg182024
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5233658
SamplesNA18507
Known GenesDLGAP2, LOC100507435
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)esv2447133
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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