A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864700



Internal ID13317294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:37457164..37457178hg38UCSC Ensembl
Innerchr7:37457139..37457203hg38UCSC Ensembl
Outerchr7:37457125..37457217hg38UCSC Ensembl
chr7:37496767..37496781hg19UCSC Ensembl
Innerchr7:37496742..37496806hg19UCSC Ensembl
Outerchr7:37496728..37496820hg19UCSC Ensembl
chr7:37463292..37463306hg18UCSC Ensembl
Innerchr7:37463331..37463267hg18UCSC Ensembl
Outerchr7:37463253..37463345hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3445702
Supporting Variants
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864700
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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