A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12574628



Internal ID3602127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:142648603..142653264hg38UCSC Ensembl
Innerchr6:142648629..142653239hg38UCSC Ensembl
Outerchr6:142648578..142653290hg38UCSC Ensembl
chr6:142969740..142974401hg19UCSC Ensembl
Innerchr6:142969766..142974376hg19UCSC Ensembl
Outerchr6:142969715..142974427hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg384662
hg194662
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611081
Supporting Variants
SamplesHG03195
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12574628
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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