A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5200092



Internal ID8291827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:182068479..182069438hg38UCSC Ensembl
Outerchr1:182037614..182038573hg19UCSC Ensembl
Outerchr1:180304237..180305196hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38317
hg19317
hg18317
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2630908
Supporting Variants
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)essv5200092
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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