A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5209317



Internal ID8301052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:2504363..2505282hg38UCSC Ensembl
Outerchr6:2504597..2505516hg19UCSC Ensembl
Outerchr6:2449596..2450515hg18UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38348
hg19348
hg18348
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2463766
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)essv5209317
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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