A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10308120



Internal ID5312471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:224805901..224808821hg38UCSC Ensembl
Innerchr1:224805926..224808796hg38UCSC Ensembl
Outerchr1:224805876..224808846hg38UCSC Ensembl
chr1:224993603..224996523hg19UCSC Ensembl
Innerchr1:224993628..224996498hg19UCSC Ensembl
Outerchr1:224993578..224996548hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg382921
hg192921
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588979
Supporting Variants
SamplesNA18861
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10308120
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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