A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5290121



Internal ID8035170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:108048276..108049725hg38UCSC Ensembl
Outerchr3:107767123..107768572hg19UCSC Ensembl
Outerchr3:109249813..109251262hg18UCSC Ensembl
Cytoband3q13.12
Allele length
AssemblyAllele length
hg381450
hg191450
hg181450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2633277
Supporting Variants
SamplesNA18507
Known GenesCD47
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)essv5290121
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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