A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2564720



Internal ID8628278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:142627487..142628862hg38UCSC Ensembl
Outerchr3:142346329..142347704hg19UCSC Ensembl
Outerchr3:143829019..143830394hg18UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg381376
hg191376
hg181376
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5199162
SamplesNA18507
Known GenesPLS1
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)esv2564720
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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