A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12653380



Internal ID3919268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:170318677..170330429hg38UCSC Ensembl
Innerchr6:170318677..170330429hg38UCSC Ensembl
Outerchr6:170318177..170330929hg38UCSC Ensembl
chr6:170627765..170639517hg19UCSC Ensembl
Innerchr6:170627765..170639517hg19UCSC Ensembl
Outerchr6:170627265..170640017hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3811753
hg1911753
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611734
Supporting Variants
SamplesHG03572
Known GenesFAM120B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12653380
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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