A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5269887



Internal ID8361622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:71861482..71863299hg38UCSC Ensembl
Outerchr6:72571185..72573002hg19UCSC Ensembl
Outerchr6:72627906..72629723hg18UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg381818
hg191818
hg181818
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2579507
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)essv5269887
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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