A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11746331



Internal ID2247502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:186309943..186312938hg38UCSC Ensembl
Innerchr4:186309943..186312938hg38UCSC Ensembl
Outerchr4:186309654..186313241hg38UCSC Ensembl
chr4:187231097..187234092hg19UCSC Ensembl
Innerchr4:187231097..187234092hg19UCSC Ensembl
Outerchr4:187230808..187234395hg19UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg382996
hg192996
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603527
Supporting Variants
SamplesHG02013
Known GenesF11-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11746331
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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