A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10309265



Internal ID5392880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226174577..226180837hg38UCSC Ensembl
Innerchr1:226174631..226180784hg38UCSC Ensembl
Outerchr1:226174524..226180891hg38UCSC Ensembl
chr1:226362278..226368538hg19UCSC Ensembl
Innerchr1:226362332..226368485hg19UCSC Ensembl
Outerchr1:226362225..226368592hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg386261
hg196261
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589009
Supporting Variants
SamplesNA18940
Known GenesACBD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10309265
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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