A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2541663



Internal ID8605221
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 StatusM
Merged Variants
Supporting Variantsessv5161954
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)esv2541663
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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