A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589198



Internal ID6972133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235621916..235627283hg38UCSC Ensembl
Innerchr1:235621916..235627283hg38UCSC Ensembl
Outerchr1:235621416..235627783hg38UCSC Ensembl
chr1:235785216..235790583hg19UCSC Ensembl
Innerchr1:235785216..235790583hg19UCSC Ensembl
Outerchr1:235784716..235791083hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg385368
hg195368
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10332904, essv10332905
SamplesHG01948, HG01756
Known GenesGNG4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589198
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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