A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12179403



Internal ID1449074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3955589..3957569hg38UCSC Ensembl
Innerchr6:3955592..3957566hg38UCSC Ensembl
Outerchr6:3955586..3957572hg38UCSC Ensembl
chr6:3955823..3957803hg19UCSC Ensembl
Innerchr6:3955826..3957800hg19UCSC Ensembl
Outerchr6:3955820..3957806hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg381981
hg191981
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607939
Supporting Variants
SamplesHG01342
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12179403
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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