A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12454079



Internal ID2660439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:83947389..83947925hg38UCSC Ensembl
Innerchr6:83947398..83947916hg38UCSC Ensembl
Outerchr6:83947380..83947934hg38UCSC Ensembl
chr6:84657108..84657644hg19UCSC Ensembl
Innerchr6:84657117..84657635hg19UCSC Ensembl
Outerchr6:84657099..84657653hg19UCSC Ensembl
Cytoband6q14.2
Allele length
AssemblyAllele length
hg38537
hg19537
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609786
Supporting Variants
SamplesHG02355
Known GenesCYB5R4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12454079
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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