A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10271349



Internal ID6251482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:205857188..205876445hg38UCSC Ensembl
Innerchr1:205857338..205876295hg38UCSC Ensembl
Outerchr1:205857038..205876595hg38UCSC Ensembl
chr1:205826316..205845573hg19UCSC Ensembl
Innerchr1:205826466..205845423hg19UCSC Ensembl
Outerchr1:205826166..205845723hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3819258
hg1919258
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588644
Supporting Variants
SamplesNA19776
Known GenesLOC284581
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10271349
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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