A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11738168



Internal ID1739984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:185447616..185603060hg38UCSC Ensembl
chr4:186368770..186524214hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38155445
hg19155445
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603496
Supporting Variants
SamplesHG02477
Known GenesC4orf47, CCDC110, PDLIM3, SORBS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11738168
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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