A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5332316



Internal ID8424051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:85998032..86005381hg38UCSC Ensembl
Outerchr6:86707750..86715099hg19UCSC Ensembl
Outerchr6:86764469..86771818hg18UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg387350
hg197350
hg187350
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2506094
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)essv5332316
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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