A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12627439



Internal ID4892278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:164992824..165002821hg38UCSC Ensembl
Innerchr6:164992838..165002807hg38UCSC Ensembl
Outerchr6:164992810..165002835hg38UCSC Ensembl
chr6:165406313..165416310hg19UCSC Ensembl
Innerchr6:165406327..165416296hg19UCSC Ensembl
Outerchr6:165406299..165416324hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg389998
hg199998
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611610
Supporting Variants
SamplesNA12414
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12627439
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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