A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2601612



Internal ID8318485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:12413383..12413812hg38UCSC Ensembl
Outerchr10:12455382..12455811hg19UCSC Ensembl
Outerchr10:12495388..12495817hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38794
hg19794
hg18794
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5236983
SamplesNA18507
Known GenesCAMK1D
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)esv2601612
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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