A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5268859



Internal ID8013908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:45340495..45342032hg38UCSC Ensembl
Outerchr6:45308232..45309769hg19UCSC Ensembl
Outerchr6:45416210..45417747hg18UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg381538
hg191538
hg181538
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2476554
Supporting Variants
SamplesNA18507
Known GenesRUNX2, SUPT3H
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)essv5268859
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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