A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9964432



Internal ID6877461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:70535396..70570277hg38UCSC Ensembl
Innerchr1:70535396..70570277hg38UCSC Ensembl
Outerchr1:70534896..70570777hg38UCSC Ensembl
chr1:71001079..71035960hg19UCSC Ensembl
Innerchr1:71001079..71035960hg19UCSC Ensembl
Outerchr1:71000579..71036460hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3834882
hg1934882
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586358
Supporting Variants
SamplesNA21100
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9964432
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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