A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7839968



Internal ID13621452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:112734637..112734638hg38UCSC Ensembl
Innerchr3:112734621..112734654hg38UCSC Ensembl
Outerchr3:112734620..112734655hg38UCSC Ensembl
chr3:112453484..112453485hg19UCSC Ensembl
Innerchr3:112453468..112453501hg19UCSC Ensembl
Outerchr3:112453467..112453502hg19UCSC Ensembl
chr3:113936174..113936175hg18UCSC Ensembl
Innerchr3:113936191..113936158hg18UCSC Ensembl
Outerchr3:113936157..113936192hg18UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg38293
hg19293
hg18293
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3308522
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7839968
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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