A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10034387



Internal ID2807049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:101632325..101633002hg38UCSC Ensembl
Innerchr1:101632361..101632966hg38UCSC Ensembl
Outerchr1:101632289..101633038hg38UCSC Ensembl
chr1:102097881..102098558hg19UCSC Ensembl
Innerchr1:102097917..102098522hg19UCSC Ensembl
Outerchr1:102097845..102098594hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38678
hg19678
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586976
Supporting Variants
SamplesHG02479
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10034387
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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