A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5213680



Internal ID8305415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:88601027..88602490hg38UCSC Ensembl
Outerchr4:89522178..89523641hg19UCSC Ensembl
Outerchr4:89741201..89742664hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg381464
hg191464
hg181464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2640318
Supporting Variants
SamplesNA18507
Known GenesHERC3
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)essv5213680
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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