A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2546592



Internal ID8263464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:219102301..219103822hg38UCSC Ensembl
Outerchr2:219967023..219968544hg19UCSC Ensembl
Outerchr2:219675267..219676788hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg381522
hg191522
hg181522
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5378305
SamplesNA18507
Known GenesNHEJ1
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)esv2546592
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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