A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5185690



Internal ID7930739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:141336627..141337476hg38UCSC Ensembl
Outerchr7:141036427..141037276hg19UCSC Ensembl
Outerchr7:140682896..140683745hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38352
hg19352
hg18352
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2435946
Supporting Variants
SamplesNA18507
Known GenesTMEM178B
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)essv5185690
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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