A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2506558



Internal ID8570117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:90221677..90223014hg38UCSC Ensembl
Outerchr8:91233905..91235242hg19UCSC Ensembl
Outerchr8:91303081..91304418hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg381338
hg191338
hg181338
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5366386
SamplesNA18507
Known GenesLINC00534
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)esv2506558
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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