A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5335838



Internal ID8080887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:126639341..126640884hg38UCSC Ensembl
Outerchr3:126358184..126359727hg19UCSC Ensembl
Outerchr3:127840874..127842417hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg381544
hg191544
hg181544
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2585777
Supporting Variants
SamplesNA18507
Known GenesTXNRD3
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)essv5335838
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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