A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586397



Internal ID6973918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:72041830..72189227hg38UCSC Ensembl
Innerchr1:72042330..72188727hg38UCSC Ensembl
Outerchr1:72040830..72190227hg38UCSC Ensembl
chr1:72507513..72654910hg19UCSC Ensembl
Innerchr1:72508013..72654410hg19UCSC Ensembl
Outerchr1:72506513..72655910hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38147398
hg19147398
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9965767
SamplesHG03802
Known GenesNEGR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586397
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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