A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10212461



Internal ID214277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:185742460..185748644hg38UCSC Ensembl
Innerchr1:185742489..185748615hg38UCSC Ensembl
Outerchr1:185742431..185748673hg38UCSC Ensembl
chr1:185711592..185717776hg19UCSC Ensembl
Innerchr1:185711621..185717747hg19UCSC Ensembl
Outerchr1:185711563..185717805hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg386185
hg196185
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588143
Supporting Variants
SamplesHG02224
Known GenesHMCN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10212461
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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