A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11677760



Internal ID5622951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:164545419..164549306hg38UCSC Ensembl
Innerchr4:164545429..164549296hg38UCSC Ensembl
Outerchr4:164545409..164549316hg38UCSC Ensembl
chr4:165466571..165470458hg19UCSC Ensembl
Innerchr4:165466581..165470448hg19UCSC Ensembl
Outerchr4:165466561..165470468hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg383888
hg193888
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602996
Supporting Variants
SamplesNA19055
Known GenesMIR5684
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11677760
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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