A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2621756



Internal ID8338628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:28794915..28812014hg38UCSC Ensembl
Outerchr6:28762692..28779791hg19UCSC Ensembl
Outerchr6:28870671..28887770hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3817100
hg1917100
hg1817100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5207421
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)esv2621756
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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