A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2554417



Internal ID8617975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:45726528..45728109hg38UCSC Ensembl
Outerchr3:45768020..45769601hg19UCSC Ensembl
Outerchr3:45743024..45744605hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381582
hg191582
hg181582
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5251973
SamplesNA18507
Known GenesSACM1L
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)esv2554417
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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