A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5260062



Internal ID8351797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:4049267..4050808hg38UCSC Ensembl
Outerchr6:4049501..4051042hg19UCSC Ensembl
Outerchr6:3994500..3996041hg18UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg381542
hg191542
hg181542
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2527172
Supporting Variants
SamplesNA18507
Known GenesPRPF4B
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)essv5260062
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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