A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5250605



Internal ID8342340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:113064281..113065762hg38UCSC Ensembl
Outerchr4:113985437..113986918hg19UCSC Ensembl
Outerchr4:114204886..114206367hg18UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg381482
hg191482
hg181482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2428650
Supporting Variants
SamplesNA18507
Known GenesANK2
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)essv5250605
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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