A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2504495



Internal ID8221367
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 StatusM
Merged Variants
Supporting Variantsessv5354354
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)esv2504495
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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