A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10258100



Internal ID3449495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:198625572..198632089hg38UCSC Ensembl
Innerchr1:198625572..198632089hg38UCSC Ensembl
Outerchr1:198625364..198632303hg38UCSC Ensembl
chr1:198594702..198601219hg19UCSC Ensembl
Innerchr1:198594702..198601219hg19UCSC Ensembl
Outerchr1:198594494..198601433hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg386518
hg196518
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588532
Supporting Variants
SamplesHG03077
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10258100
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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