A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5333821



Internal ID8425556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:7501852..7503406hg38UCSC Ensembl
Outerchr7:7541483..7543037hg19UCSC Ensembl
Outerchr7:7508008..7509562hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg381555
hg191555
hg181555
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2589325
Supporting Variants
SamplesNA18507
Known GenesCOL28A1
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)essv5333821
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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