A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586833



Internal ID6627142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93830799..93837147hg38UCSC Ensembl
Innerchr1:93830849..93837097hg38UCSC Ensembl
Outerchr1:93830668..93837278hg38UCSC Ensembl
chr1:94296355..94302703hg19UCSC Ensembl
Innerchr1:94296405..94302653hg19UCSC Ensembl
Outerchr1:94296224..94302834hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg386349
hg196349
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10023696, essv10023697, essv10023695, essv10023698
SamplesNA20281, HG02979, HG03157, NA19350
Known GenesBCAR3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586833
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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