A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5332107



Internal ID8423842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:107727351..107727946hg38UCSC Ensembl
Outerchr7:107367796..107368391hg19UCSC Ensembl
Outerchr7:107155032..107155627hg18UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg38584
hg19584
hg18584
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2442510
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)essv5332107
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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