A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12410976



Internal ID2412792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:70191332..70192448hg38UCSC Ensembl
Innerchr6:70191339..70192442hg38UCSC Ensembl
Outerchr6:70191326..70192455hg38UCSC Ensembl
chr6:70901036..70902152hg19UCSC Ensembl
Innerchr6:70901043..70902146hg19UCSC Ensembl
Outerchr6:70901030..70902159hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg381117
hg191117
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609430
Supporting Variants
SamplesHG03644
Known GenesCOL19A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12410976
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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