A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5345390



Internal ID8090439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:141413340..141414841hg38UCSC Ensembl
Outerchr7:141113140..141114641hg19UCSC Ensembl
Outerchr7:140759609..140761110hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg381502
hg191502
hg181502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2580388
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)essv5345390
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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