A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9929512



Internal ID6554805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53020201..53021306hg38UCSC Ensembl
Innerchr1:53020201..53021306hg38UCSC Ensembl
Outerchr1:53019935..53021539hg38UCSC Ensembl
chr1:53485873..53486978hg19UCSC Ensembl
Innerchr1:53485873..53486978hg19UCSC Ensembl
Outerchr1:53485607..53487211hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381106
hg191106
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586061
Supporting Variants
SamplesHG02391
Known GenesSCP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9929512
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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