A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5330163



Internal ID8421898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:169247989..169255143hg38UCSC Ensembl
Outerchr2:170104499..170111653hg19UCSC Ensembl
Outerchr2:169812745..169819899hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg387155
hg197155
hg187155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2639235
Supporting Variants
SamplesNA18507
Known GenesLRP2
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)essv5330163
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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