A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586391



Internal ID6973912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:71941634..72011243hg38UCSC Ensembl
Innerchr1:71941636..72011242hg38UCSC Ensembl
Outerchr1:71941633..72011245hg38UCSC Ensembl
chr1:72407317..72476926hg19UCSC Ensembl
Innerchr1:72407319..72476925hg19UCSC Ensembl
Outerchr1:72407316..72476928hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3869610
hg1969610
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv25e214
Supporting Variantsessv9964970
SamplesHG04206
Known GenesNEGR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586391
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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