A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5337898



Internal ID8429633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:112575155..112576659hg38UCSC Ensembl
Outerchr3:112294002..112295506hg19UCSC Ensembl
Outerchr3:113776692..113778196hg18UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg381505
hg191505
hg181505
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2491896
Supporting Variants
SamplesNA18507
Known GenesSLC35A5
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)essv5337898
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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