A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9605423



Internal ID13421857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:169158673..169158692hg38UCSC Ensembl
Innerchr2:169158669..169158696hg38UCSC Ensembl
Outerchr2:169158650..169158715hg38UCSC Ensembl
chr2:170015183..170015202hg19UCSC Ensembl
Innerchr2:170015179..170015206hg19UCSC Ensembl
Outerchr2:170015160..170015225hg19UCSC Ensembl
chr2:169723429..169723448hg18UCSC Ensembl
Innerchr2:169723452..169723425hg18UCSC Ensembl
Outerchr2:169723406..169723471hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3412743
Supporting Variants
SamplesNA12249
Known GenesLRP2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9605423
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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