A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10204114



Internal ID5979033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:181069034..181069808hg38UCSC Ensembl
Innerchr1:181069039..181069803hg38UCSC Ensembl
Outerchr1:181069029..181069813hg38UCSC Ensembl
chr1:181038170..181038944hg19UCSC Ensembl
Innerchr1:181038175..181038939hg19UCSC Ensembl
Outerchr1:181038165..181038949hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38775
hg19775
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588076
Supporting Variants
SamplesNA19385
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10204114
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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