A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2461086



Internal ID8177958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:224513591..224515046hg38UCSC Ensembl
Outerchr2:225378308..225379763hg19UCSC Ensembl
Outerchr2:225086552..225088007hg18UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg381456
hg191456
hg181456
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5328021
SamplesNA18507
Known GenesCUL3
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)esv2461086
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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