A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609430



Internal ID6649660
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12410974, essv12410975, essv12410977, essv12410976
SamplesHG03965, HG03018, HG02786, HG03644
Known GenesCOL19A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609430
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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