A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10233377



Internal ID1279071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:191228403..191231899hg38UCSC Ensembl
Innerchr1:191228553..191231749hg38UCSC Ensembl
Outerchr1:191228253..191232049hg38UCSC Ensembl
chr1:191197533..191201029hg19UCSC Ensembl
Innerchr1:191197683..191200879hg19UCSC Ensembl
Outerchr1:191197383..191201179hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg383497
hg193497
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588318
Supporting Variants
SamplesHG01124
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10233377
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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