A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2557221



Internal ID8274093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:56928558..56929482hg38UCSC Ensembl
Outerchr1:57394231..57395155hg19UCSC Ensembl
Outerchr1:57166819..57167743hg18UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38216
hg19216
hg18216
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5202402
SamplesNA18507
Known GenesC8B
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)esv2557221
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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