A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12653385



Internal ID3297511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:170343270..170344482hg38UCSC Ensembl
Innerchr6:170343280..170344472hg38UCSC Ensembl
Outerchr6:170343260..170344492hg38UCSC Ensembl
chr6:170652358..170653570hg19UCSC Ensembl
Innerchr6:170652368..170653560hg19UCSC Ensembl
Outerchr6:170652348..170653580hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381213
hg191213
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611735
Supporting Variants
SamplesHG02941
Known GenesFAM120B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12653385
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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