A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7863682



Internal ID12969430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:23524106..23524113hg38UCSC Ensembl
Innerchr1:23524104..23524115hg38UCSC Ensembl
Outerchr1:23524097..23524122hg38UCSC Ensembl
chr1:23850598..23850605hg19UCSC Ensembl
Innerchr1:23850596..23850607hg19UCSC Ensembl
Outerchr1:23850589..23850614hg19UCSC Ensembl
chr1:23723185..23723192hg18UCSC Ensembl
Innerchr1:23723194..23723183hg18UCSC Ensembl
Outerchr1:23723176..23723201hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3417141
Supporting Variants
SamplesNA12005
Known GenesE2F2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7863682
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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