A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5322780



Internal ID8414515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:121016253..121017648hg38UCSC Ensembl
Outerchr3:120735100..120736495hg19UCSC Ensembl
Outerchr3:122217790..122219185hg18UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg381396
hg191396
hg181396
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2557637
Supporting Variants
SamplesNA18507
Known GenesSTXBP5L
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)essv5322780
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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