A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2425200



Internal ID8488758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:171907966..171909048hg38UCSC Ensembl
Outerchr3:171625756..171626838hg19UCSC Ensembl
Outerchr3:173108450..173109532hg18UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg38176
hg19176
hg18176
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5355388
SamplesNA18507
Known Genes
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)esv2425200
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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