A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11244281



Internal ID2570863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:179058529..179063973hg38UCSC Ensembl
Innerchr3:179059029..179063473hg38UCSC Ensembl
Outerchr3:179057529..179064973hg38UCSC Ensembl
chr3:178776317..178781761hg19UCSC Ensembl
Innerchr3:178776817..178781261hg19UCSC Ensembl
Outerchr3:178775317..178782761hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg385445
hg195445
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598831
Supporting Variants
SamplesHG02281
Known GenesZMAT3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11244281
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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