A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2606666



Internal ID8323538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:178403249..178404637hg38UCSC Ensembl
Outerchr1:178372384..178373772hg19UCSC Ensembl
Outerchr1:176639007..176640395hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg381389
hg191389
hg181389
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5299571
SamplesNA18507
Known GenesRASAL2
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)esv2606666
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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