A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585637



Internal ID6973157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:30802470..30808736hg38UCSC Ensembl
Innerchr1:30802470..30808736hg38UCSC Ensembl
Outerchr1:30802376..30808767hg38UCSC Ensembl
chr1:31275317..31281583hg19UCSC Ensembl
Innerchr1:31275317..31281583hg19UCSC Ensembl
Outerchr1:31275223..31281614hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg386267
hg196267
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9895551, essv9895552
SamplesHG02895, NA19210
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585637
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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