A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5393846



Internal ID8485581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:3501007..3502730hg38UCSC Ensembl
Outerchr5:3501121..3502844hg19UCSC Ensembl
Outerchr5:3554121..3555844hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381724
hg191724
hg181724
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2520977
Supporting Variants
SamplesNA18507
Known GenesLINC01019, LOC102467075
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)essv5393846
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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