A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5191133



Internal ID7936182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:4740086..4741130hg38UCSC Ensembl
Outerchr1:4800146..4801190hg19UCSC Ensembl
Outerchr1:4700006..4701050hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38271
hg19271
hg18271
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2651800
Supporting Variants
SamplesNA18507
Known GenesAJAP1
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)essv5191133
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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