A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10266362



Internal ID3852868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:203918545..203920770hg38UCSC Ensembl
Innerchr1:203918545..203920770hg38UCSC Ensembl
Outerchr1:203918545..203920770hg38UCSC Ensembl
chr1:203887673..203889898hg19UCSC Ensembl
Innerchr1:203887673..203889898hg19UCSC Ensembl
Outerchr1:203887673..203889898hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg382226
hg192226
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588607
Supporting Variants
SamplesHG03485
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10266362
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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