A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588739



Internal ID6976155
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10285484
SamplesHG02384
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588739
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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