A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10204384



Internal ID1876974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:181074212..181074672hg38UCSC Ensembl
Innerchr1:181074284..181074601hg38UCSC Ensembl
Outerchr1:181074141..181074744hg38UCSC Ensembl
chr1:181043348..181043808hg19UCSC Ensembl
Innerchr1:181043420..181043737hg19UCSC Ensembl
Outerchr1:181043277..181043880hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38461
hg19461
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588077
Supporting Variants
SamplesHG01770
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10204384
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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