A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586305



Internal ID6626618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:67358312..67366558hg38UCSC Ensembl
Innerchr1:67358812..67366058hg38UCSC Ensembl
Outerchr1:67357312..67367558hg38UCSC Ensembl
chr1:67823995..67832241hg19UCSC Ensembl
Innerchr1:67824495..67831741hg19UCSC Ensembl
Outerchr1:67822995..67833241hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg388247
hg198247
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9958931
SamplesHG00448
Known GenesIL12RB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586305
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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