A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11228794



Internal ID6524999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:173507638..173601328hg38UCSC Ensembl
chr3:173225428..173319118hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3893691
hg1993691
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598695
Supporting Variants
SamplesNA20543
Known GenesNLGN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11228794
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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