A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5362991



Internal ID8108040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:39468375..39469961hg38UCSC Ensembl
Outerchr3:39509866..39511452hg19UCSC Ensembl
Outerchr3:39484870..39486456hg18UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg381587
hg191587
hg181587
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2425951
Supporting Variants
SamplesNA18507
Known GenesMOBP
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)essv5362991
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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