A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5260607



Internal ID8352342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:189857529..189859073hg38UCSC Ensembl
Outerchr3:189575318..189576862hg19UCSC Ensembl
Outerchr3:191058012..191059556hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg381545
hg191545
hg181545
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2476340
Supporting Variants
SamplesNA18507
Known GenesTP63
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)essv5260607
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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