A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864138



Internal ID14645759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:55628198..55628241hg38UCSC Ensembl
Innerchr3:55628195..55628244hg38UCSC Ensembl
Outerchr3:55628152..55628287hg38UCSC Ensembl
chr3:55662226..55662269hg19UCSC Ensembl
Innerchr3:55662223..55662272hg19UCSC Ensembl
Outerchr3:55662180..55662315hg19UCSC Ensembl
chr3:55637266..55637309hg18UCSC Ensembl
Innerchr3:55637312..55637263hg18UCSC Ensembl
Outerchr3:55637220..55637355hg18UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3359640
Supporting Variants
SamplesNA18961
Known GenesERC2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864138
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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