A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2467680



Internal ID8531238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:176508261..176510233hg38UCSC Ensembl
Outerchr1:176477397..176479369hg19UCSC Ensembl
Outerchr1:174744020..174745992hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg381973
hg191973
hg181973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5326679
SamplesNA18507
Known GenesPAPPA2
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)esv2467680
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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