A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11317602



Internal ID2314745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:3444970..3450219hg38UCSC Ensembl
chr4:3446697..3451946hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg385250
hg195250
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599430
Supporting Variants
SamplesHG02061
Known GenesHGFAC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11317602
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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