A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2574672



Internal ID8638230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:122360730..122362141hg38UCSC Ensembl
Outerchr3:122079577..122080988hg19UCSC Ensembl
Outerchr3:123562267..123563678hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg381412
hg191412
hg181412
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5332639
SamplesNA18507
Known GenesCCDC58
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)esv2574672
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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