A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10022349



Internal ID24165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93747265..93748030hg38UCSC Ensembl
Innerchr1:93747265..93748030hg38UCSC Ensembl
Outerchr1:93747017..93748345hg38UCSC Ensembl
chr1:94212821..94213586hg19UCSC Ensembl
Innerchr1:94212821..94213586hg19UCSC Ensembl
Outerchr1:94212573..94213901hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38766
hg19766
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586831
Supporting Variants
SamplesHG03304
Known GenesBCAR3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10022349
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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