A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2478624



Internal ID8195496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:105835620..105836628hg38UCSC Ensembl
Outerchr2:106452076..106453084hg19UCSC Ensembl
Outerchr2:105818508..105819516hg18UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5260641
SamplesNA18507
Known GenesNCK2
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)esv2478624
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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