A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5210174



Internal ID8301909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:143889053..143890519hg38UCSC Ensembl
Outerchr3:143607895..143609361hg19UCSC Ensembl
Outerchr3:145090585..145092051hg18UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg381467
hg191467
hg181467
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2509262
Supporting Variants
SamplesNA18507
Known Genes
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)essv5210174
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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