A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2518482



Internal ID8235355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:109576745..109578400hg38UCSC Ensembl
Outerchr4:110497901..110499556hg19UCSC Ensembl
Outerchr4:110717350..110719005hg18UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg381656
hg191656
hg181656
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5228826
SamplesNA18507
Known GenesCCDC109B
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)esv2518482
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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