A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9596614



Internal ID13617783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:164773532..164773551hg38UCSC Ensembl
Innerchr1:164773528..164773555hg38UCSC Ensembl
Outerchr1:164773509..164773574hg38UCSC Ensembl
chr1:164742769..164742788hg19UCSC Ensembl
Innerchr1:164742765..164742792hg19UCSC Ensembl
Outerchr1:164742746..164742811hg19UCSC Ensembl
chr1:163009393..163009412hg18UCSC Ensembl
Innerchr1:163009416..163009389hg18UCSC Ensembl
Outerchr1:163009370..163009435hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3401993
Supporting Variants
SamplesNA12873
Known GenesLOC100505795, PBX1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9596614
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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