A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2591433



Internal ID8654991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:226185138..226185146hg38UCSC Ensembl
Outerchr1:226372839..226372847hg19UCSC Ensembl
Outerchr1:224439462..224439470hg18UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg381287
hg191287
hg181287
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5227147
SamplesNA18507
Known GenesACBD3
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)esv2591433
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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