A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2631918



Internal ID8348790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:2400813..2401808hg38UCSC Ensembl
Outerchr1:2332252..2333247hg19UCSC Ensembl
Outerchr1:2322112..2323107hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38301
hg19301
hg18301
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5353074
SamplesNA18507
Known GenesRER1
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)esv2631918
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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