A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9597936



Internal ID13617018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:204625443..204625462hg38UCSC Ensembl
Innerchr1:204625439..204625466hg38UCSC Ensembl
Outerchr1:204625420..204625485hg38UCSC Ensembl
chr1:204594571..204594590hg19UCSC Ensembl
Innerchr1:204594567..204594594hg19UCSC Ensembl
Outerchr1:204594548..204594613hg19UCSC Ensembl
chr1:202861194..202861213hg18UCSC Ensembl
Innerchr1:202861217..202861190hg18UCSC Ensembl
Outerchr1:202861171..202861236hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3328620
Supporting Variants
SamplesNA12872
Known GenesLRRN2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9597936
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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