A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588770



Internal ID6976186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:213411731..213414170hg38UCSC Ensembl
Innerchr1:213411731..213414170hg38UCSC Ensembl
Outerchr1:213411590..213414319hg38UCSC Ensembl
chr1:213585074..213587513hg19UCSC Ensembl
Innerchr1:213585074..213587513hg19UCSC Ensembl
Outerchr1:213584933..213587662hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg382440
hg192440
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10291239
SamplesHG02375
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588770
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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