A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2626441



Internal ID8689999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:45133364..45133854hg38UCSC Ensembl
Outerchr3:45174856..45175346hg19UCSC Ensembl
Outerchr3:45149860..45150350hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38770
hg19770
hg18770
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5375116
SamplesNA18507
Known GenesCDCP1
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)esv2626441
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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