A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10285484



Internal ID2695835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211890738..211891232hg38UCSC Ensembl
Innerchr1:211890781..211891190hg38UCSC Ensembl
Outerchr1:211890696..211891275hg38UCSC Ensembl
chr1:212064080..212064574hg19UCSC Ensembl
Innerchr1:212064123..212064532hg19UCSC Ensembl
Outerchr1:212064038..212064617hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38495
hg19495
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588739
Supporting Variants
SamplesHG02384
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10285484
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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