A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161954



Internal ID8253689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:97238433..97239204hg38UCSC Ensembl
Outerchr6:97686309..97687080hg19UCSC Ensembl
Outerchr6:97793030..97793801hg18UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg38456
hg19456
hg18456
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2541663
Supporting Variants
SamplesNA18507
Known GenesMIR548H3, MMS22L
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)essv5161954
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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