A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10240224



Internal ID1723818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:193957701..193964927hg38UCSC Ensembl
Innerchr1:193957740..193964889hg38UCSC Ensembl
Outerchr1:193957663..193964966hg38UCSC Ensembl
chr1:193926831..193934057hg19UCSC Ensembl
Innerchr1:193926870..193934019hg19UCSC Ensembl
Outerchr1:193926793..193934096hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg387227
hg197227
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588380
Supporting Variants
SamplesHG01599
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10240224
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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