A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2472692



Internal ID8189564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:396264..397630hg38UCSC Ensembl
Outerchr6:396264..397630hg19UCSC Ensembl
Outerchr6:341264..342630hg18UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg381367
hg191367
hg181367
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5340885
SamplesNA18507
Known GenesIRF4
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)esv2472692
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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