A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5378305



Internal ID8123354
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 StatusS
Merged Variantsesv2546592
Supporting Variants
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)essv5378305
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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