A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10029907



Internal ID31723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:100329342..100331787hg38UCSC Ensembl
Innerchr1:100329372..100331758hg38UCSC Ensembl
Outerchr1:100329313..100331817hg38UCSC Ensembl
chr1:100794898..100797343hg19UCSC Ensembl
Innerchr1:100794928..100797314hg19UCSC Ensembl
Outerchr1:100794869..100797373hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg382446
hg192446
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586939
Supporting Variants
SamplesHG00867
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10029907
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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