A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5271590



Internal ID8363325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:32345484..32346964hg38UCSC Ensembl
Outerchr6:32313261..32314741hg19UCSC Ensembl
Outerchr6:32421239..32422719hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg381481
hg191481
hg181481
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2569081
Supporting Variants
SamplesNA18507
Known GenesC6orf10
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)essv5271590
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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