A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9633703



Internal ID13339647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:42571471..42571490hg38UCSC Ensembl
Innerchr7:42571467..42571494hg38UCSC Ensembl
Outerchr7:42571448..42571513hg38UCSC Ensembl
chr7:42611070..42611089hg19UCSC Ensembl
Innerchr7:42611066..42611093hg19UCSC Ensembl
Outerchr7:42611047..42611112hg19UCSC Ensembl
chr7:42577595..42577614hg18UCSC Ensembl
Innerchr7:42577618..42577591hg18UCSC Ensembl
Outerchr7:42577572..42577637hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3336965
Supporting Variants
SamplesNA12043
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9633703
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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