A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2497076



Internal ID8560634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:21714233..21715798hg38UCSC Ensembl
Outerchr4:21715856..21717421hg19UCSC Ensembl
Outerchr4:21324954..21326519hg18UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg381566
hg191566
hg181566
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5248655
SamplesNA18507
Known GenesKCNIP4
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)esv2497076
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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