A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11257592



Internal ID3263183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:185129689..185140223hg38UCSC Ensembl
Innerchr3:185129689..185140223hg38UCSC Ensembl
Outerchr3:185129462..185140402hg38UCSC Ensembl
chr3:184847477..184858011hg19UCSC Ensembl
Innerchr3:184847477..184858011hg19UCSC Ensembl
Outerchr3:184847250..184858190hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg3810535
hg1910535
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598962
Supporting Variants
SamplesHG02882
Known GenesC3orf70
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11257592
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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