A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9964667



Internal ID4536000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:70771678..70774648hg38UCSC Ensembl
Innerchr1:70771679..70774648hg38UCSC Ensembl
Outerchr1:70771678..70774649hg38UCSC Ensembl
chr1:71237361..71240331hg19UCSC Ensembl
Innerchr1:71237362..71240331hg19UCSC Ensembl
Outerchr1:71237361..71240332hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg382971
hg192971
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586363
Supporting Variants
SamplesHG04029
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9964667
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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