A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5296873



Internal ID8041922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:154022172..154022635hg38UCSC Ensembl
Outerchr6:154343307..154343770hg19UCSC Ensembl
Outerchr6:154385000..154385463hg18UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg38753
hg19753
hg18753
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2516727
Supporting Variants
SamplesNA18507
Known GenesOPRM1
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)essv5296873
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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