A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2650475



Internal ID8714033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:212709156..212710715hg38UCSC Ensembl
Outerchr2:213573880..213575439hg19UCSC Ensembl
Outerchr2:213282125..213283684hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg381560
hg191560
hg181560
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5334659
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)esv2650475
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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