A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5393408



Internal ID8485143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:180667787..180688739hg38UCSC Ensembl
Outerchr3:180385575..180406527hg19UCSC Ensembl
Outerchr3:181868269..181889221hg18UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg3820953
hg1920953
hg1820953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2484281
Supporting Variants
SamplesNA18507
Known GenesCCDC39
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)essv5393408
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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