A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10153617



Internal ID3340592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:157063589..157066632hg38UCSC Ensembl
Innerchr1:157063589..157066632hg38UCSC Ensembl
Outerchr1:157063455..157066771hg38UCSC Ensembl
chr1:157033381..157036424hg19UCSC Ensembl
Innerchr1:157033381..157036424hg19UCSC Ensembl
Outerchr1:157033247..157036563hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg383044
hg193044
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587645
Supporting Variants
SamplesHG02979
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10153617
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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