A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609427



Internal ID6649657
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12410969, essv12410967, essv12410970, essv12410968, essv12410965, essv12410964, essv12410966, essv12410963, essv12410962, essv12410961
SamplesHG00613, HG00537, NA18595, HG00619, HG02164, HG00479, NA18636, NA19088, HG00407, NA18984
Known GenesCOL19A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609427
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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