A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11944244



Internal ID4677017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:73779967..73784488hg38UCSC Ensembl
chr5:73075792..73080313hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg384522
hg194522
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605420
Supporting Variants
SamplesHG04202
Known GenesARHGEF28
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11944244
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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