A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11128288



Internal ID6751580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:125153814..125154876hg38UCSC Ensembl
Innerchr3:125153826..125154865hg38UCSC Ensembl
Outerchr3:125153803..125154888hg38UCSC Ensembl
chr3:124872658..124873720hg19UCSC Ensembl
Innerchr3:124872670..124873709hg19UCSC Ensembl
Outerchr3:124872647..124873732hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg381063
hg191063
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597648
Supporting Variants
SamplesNA20866
Known GenesSLC12A8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11128288
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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