A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11429710



Internal ID5531350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:48978121..48993691hg38UCSC Ensembl
Innerchr4:48978121..48993691hg38UCSC Ensembl
Outerchr4:48977621..48994191hg38UCSC Ensembl
chr4:48980138..48995708hg19UCSC Ensembl
Innerchr4:48980138..48995708hg19UCSC Ensembl
Outerchr4:48979638..48996208hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3815571
hg1915571
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600473
Supporting Variants
SamplesNA18998
Known GenesCWH43
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11429710
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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