A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5348576



Internal ID8440311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:150159588..150161119hg38UCSC Ensembl
Outerchr3:149877375..149878906hg19UCSC Ensembl
Outerchr3:151360065..151361596hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg381532
hg191532
hg181532
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2469181
Supporting Variants
SamplesNA18507
Known Genes
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)essv5348576
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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