A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5375954



Internal ID8121003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:67494500..67495823hg38UCSC Ensembl
Outerchr4:68360218..68361541hg19UCSC Ensembl
Outerchr4:68042813..68044136hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg381324
hg191324
hg181324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2605147
Supporting Variants
SamplesNA18507
Known GenesCENPC
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)essv5375954
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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