A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10288799



Internal ID3416181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212886332..212887712hg38UCSC Ensembl
Innerchr1:212886343..212887701hg38UCSC Ensembl
Outerchr1:212886321..212887723hg38UCSC Ensembl
chr1:213059674..213061054hg19UCSC Ensembl
Innerchr1:213059685..213061043hg19UCSC Ensembl
Outerchr1:213059663..213061065hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381381
hg191381
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588758
Supporting Variants
SamplesHG03057
Known GenesFLVCR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10288799
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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