A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11317184



Internal ID1319000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2863973..2865976hg38UCSC Ensembl
Innerchr4:2863989..2865960hg38UCSC Ensembl
Outerchr4:2863957..2865992hg38UCSC Ensembl
chr4:2865700..2867703hg19UCSC Ensembl
Innerchr4:2865716..2867687hg19UCSC Ensembl
Outerchr4:2865684..2867719hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg382004
hg192004
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599411
Supporting Variants
SamplesHG03910
Known GenesADD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11317184
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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