A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5287043



Internal ID8378778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:37330141..37331642hg38UCSC Ensembl
Outerchr4:37331763..37333264hg19UCSC Ensembl
Outerchr4:37008158..37009659hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg381502
hg191502
hg181502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2445355
Supporting Variants
SamplesNA18507
Known GenesKIAA1239
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)essv5287043
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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