A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9925775



Internal ID6551068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45560799..45562574hg38UCSC Ensembl
Innerchr1:45560852..45562521hg38UCSC Ensembl
Outerchr1:45560746..45562627hg38UCSC Ensembl
chr1:46026471..46028246hg19UCSC Ensembl
Innerchr1:46026524..46028193hg19UCSC Ensembl
Outerchr1:46026418..46028299hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg381776
hg191776
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585910
Supporting Variants
SamplesHG00472
Known GenesAKR1A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9925775
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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