A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7767181



Internal ID13223238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:112734623..112734624hg38UCSC Ensembl
Innerchr3:112734601..112734646hg38UCSC Ensembl
Outerchr3:112734600..112734647hg38UCSC Ensembl
chr3:112453470..112453471hg19UCSC Ensembl
Innerchr3:112453448..112453493hg19UCSC Ensembl
Outerchr3:112453447..112453494hg19UCSC Ensembl
chr3:113936160..113936161hg18UCSC Ensembl
Innerchr3:113936183..113936138hg18UCSC Ensembl
Outerchr3:113936137..113936184hg18UCSC 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 Variantsesv3305503
Supporting Variants
SamplesNA11931
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7767181
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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