A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5278246



Internal ID8369981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:87575204..87576941hg38UCSC Ensembl
Outerchr6:88284922..88286659hg19UCSC Ensembl
Outerchr6:88341641..88343378hg18UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg381738
hg191738
hg181738
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2569279
Supporting Variants
SamplesNA18507
Known GenesRARS2
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)essv5278246
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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