A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9596201



Internal ID13421809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:117837056..117837075hg38UCSC Ensembl
Innerchr1:117837052..117837079hg38UCSC Ensembl
Outerchr1:117837033..117837098hg38UCSC Ensembl
chr1:118379678..118379697hg19UCSC Ensembl
Innerchr1:118379674..118379701hg19UCSC Ensembl
Outerchr1:118379655..118379720hg19UCSC Ensembl
chr1:118181201..118181220hg18UCSC Ensembl
Innerchr1:118181224..118181197hg18UCSC Ensembl
Outerchr1:118181178..118181243hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3349759
Supporting Variants
SamplesNA12249
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9596201
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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