A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12410962



Internal ID2412778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:69998680..70008720hg38UCSC Ensembl
Innerchr6:69998680..70008720hg38UCSC Ensembl
Outerchr6:69998180..70009220hg38UCSC Ensembl
chr6:70708572..70718612hg19UCSC Ensembl
Innerchr6:70708572..70718612hg19UCSC Ensembl
Outerchr6:70708072..70719112hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3810041
hg1910041
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609427
Supporting Variants
SamplesHG00479
Known GenesCOL19A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12410962
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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