A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10207579



Internal ID5308474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:182301327..182302683hg38UCSC Ensembl
Innerchr1:182301377..182302633hg38UCSC Ensembl
Outerchr1:182301249..182302761hg38UCSC Ensembl
chr1:182270462..182271818hg19UCSC Ensembl
Innerchr1:182270512..182271768hg19UCSC Ensembl
Outerchr1:182270384..182271896hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg381357
hg191357
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588099
Supporting Variants
SamplesNA18858
Known GenesLOC400799
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10207579
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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