A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5287478



Internal ID8032527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:42021124..42022654hg38UCSC Ensembl
Outerchr4:42023141..42024671hg19UCSC Ensembl
Outerchr4:41717898..41719428hg18UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg381531
hg191531
hg181531
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2565491
Supporting Variants
SamplesNA18507
Known GenesSLC30A9
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)essv5287478
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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