A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9929396



Internal ID1013555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52712606..52721956hg38UCSC Ensembl
Innerchr1:52713106..52721456hg38UCSC Ensembl
Outerchr1:52711606..52722956hg38UCSC Ensembl
chr1:53178278..53187628hg19UCSC Ensembl
Innerchr1:53178778..53187128hg19UCSC Ensembl
Outerchr1:53177278..53188628hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg389351
hg199351
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586054
Supporting Variants
SamplesHG00632
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9929396
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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