A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10239992



Internal ID2142545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:193677423..193685153hg38UCSC Ensembl
Innerchr1:193677423..193685153hg38UCSC Ensembl
Outerchr1:193676923..193685653hg38UCSC Ensembl
chr1:193646553..193654283hg19UCSC Ensembl
Innerchr1:193646553..193654283hg19UCSC Ensembl
Outerchr1:193646053..193654783hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg387731
hg197731
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588372
Supporting Variants
SamplesHG01942
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10239992
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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