A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5345930



Internal ID8437665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:194943218..194943830hg38UCSC Ensembl
Outerchr3:194663947..194664559hg19UCSC Ensembl
Outerchr3:196145236..196145848hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38532
hg19532
hg18532
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2581881
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)essv5345930
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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