A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5354354



Internal ID8099403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:10365676..10365987hg38UCSC Ensembl
Outerchr3:10407360..10407671hg19UCSC Ensembl
Outerchr3:10382360..10382671hg18UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg38918
hg19918
hg18918
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2504495
Supporting Variants
SamplesNA18507
Known GenesATP2B2
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)essv5354354
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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