A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2433413



Internal ID8150285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:80789053..80790539hg38UCSC Ensembl
Outerchr14:81255397..81256883hg19UCSC Ensembl
Outerchr14:80325150..80326636hg18UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg381487
hg191487
hg181487
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5313471
SamplesNA18507
Known GenesCEP128
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)esv2433413
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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