A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10212970



Internal ID2340267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:186706362..186711234hg38UCSC Ensembl
Innerchr1:186706372..186711224hg38UCSC Ensembl
Outerchr1:186706352..186711244hg38UCSC Ensembl
chr1:186675494..186680366hg19UCSC Ensembl
Innerchr1:186675504..186680356hg19UCSC Ensembl
Outerchr1:186675484..186680376hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg384873
hg194873
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588153
Supporting Variants
SamplesHG02079
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10212970
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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