A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10153685



Internal ID155501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:157203084..157206248hg38UCSC Ensembl
Innerchr1:157203084..157206248hg38UCSC Ensembl
Outerchr1:157202584..157206748hg38UCSC Ensembl
chr1:157172874..157176038hg19UCSC Ensembl
Innerchr1:157172874..157176038hg19UCSC Ensembl
Outerchr1:157172374..157176538hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg383165
hg193165
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587648
Supporting Variants
SamplesHG03439
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10153685
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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