A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5201055



Internal ID7946104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:239898361..239899810hg38UCSC Ensembl
Outerchr2:240837778..240839227hg19UCSC Ensembl
Outerchr2:240486792..240487935hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38344
hg19344
hg18344
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2509951
Supporting Variants
SamplesNA18507
Known Genes
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)essv5201055
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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