A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5207306



Internal ID7952355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:139423831..139425374hg38UCSC Ensembl
Outerchr7:139108577..139110120hg19UCSC Ensembl
Outerchr7:138759117..138760660hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg381544
hg191544
hg181544
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2584872
Supporting Variants
SamplesNA18507
Known GenesLOC100129148
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)essv5207306
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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