A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5340480



Internal ID8085529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:24810663..24818330hg38UCSC Ensembl
Outerchr6:24810891..24818558hg19UCSC Ensembl
Outerchr6:24918870..24926537hg18UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg387668
hg197668
hg187668
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2592028
Supporting Variants
SamplesNA18507
Known GenesFAM65B
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)essv5340480
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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