A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10193397



Internal ID4018963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:177710511..177724966hg38UCSC Ensembl
Innerchr1:177710522..177724956hg38UCSC Ensembl
Outerchr1:177710501..177724977hg38UCSC Ensembl
chr1:177679646..177694101hg19UCSC Ensembl
Innerchr1:177679657..177694091hg19UCSC Ensembl
Outerchr1:177679636..177694112hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3814456
hg1914456
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588019
Supporting Variants
SamplesHG03672
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10193397
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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