A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2512026



Internal ID8575584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:122603297..122604634hg38UCSC Ensembl
Outerchr3:122322144..122323481hg19UCSC Ensembl
Outerchr3:123804834..123806171hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg381338
hg191338
hg181338
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5330742
SamplesNA18507
Known GenesPARP15
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)esv2512026
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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