A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12345033



Internal ID2557828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:49982122..49990276hg38UCSC Ensembl
Innerchr6:49982122..49990276hg38UCSC Ensembl
Outerchr6:49981936..49990490hg38UCSC Ensembl
chr6:49949835..49957989hg19UCSC Ensembl
Innerchr6:49949835..49957989hg19UCSC Ensembl
Outerchr6:49949649..49958203hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg388155
hg198155
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608956
Supporting Variants
SamplesHG02272
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12345033
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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