A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694074



Internal ID15010169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:44681856..44683554hg38UCSC Ensembl
Innerchr3:44682554..44682856hg38UCSC Ensembl
Outerchr3:44680856..44684554hg38UCSC Ensembl
chr3:44723348..44725046hg19UCSC Ensembl
Innerchr3:44724046..44724348hg19UCSC Ensembl
Outerchr3:44722348..44726046hg19UCSC Ensembl
chr3:44698352..44700050hg18UCSC Ensembl
Innerchr3:44699352..44699050hg18UCSC Ensembl
Outerchr3:44697352..44701050hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3395836
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694074
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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