A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5217753



Internal ID8309488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:1533561..1535194hg38UCSC Ensembl
Outerchr6:1533796..1535429hg19UCSC Ensembl
Outerchr6:1478795..1480428hg18UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg381634
hg191634
hg181634
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2648974
Supporting Variants
SamplesNA18507
Known Genes
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)essv5217753
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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