A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2538670



Internal ID8255542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:128113266..128114710hg38UCSC Ensembl
Outerchr2:128870840..128872284hg19UCSC Ensembl
Outerchr2:128587310..128588754hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg381445
hg191445
hg181445
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5202124
SamplesNA18507
Known GenesUGGT1
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)esv2538670
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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