A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2510248



Internal ID8573806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:82965957..82967373hg38UCSC Ensembl
Outerchr6:83675676..83677092hg19UCSC Ensembl
Outerchr6:83732395..83733811hg18UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg381417
hg191417
hg181417
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5265847
SamplesNA18507
Known GenesUBE3D
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)esv2510248
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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