A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609509



Internal ID6649739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:73412342..73419086hg38UCSC Ensembl
Innerchr6:73412342..73419086hg38UCSC Ensembl
Outerchr6:73411842..73419586hg38UCSC Ensembl
chr6:74122065..74128809hg19UCSC Ensembl
Innerchr6:74122065..74128809hg19UCSC Ensembl
Outerchr6:74121565..74129309hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg386745
hg196745
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12420316
SamplesHG01359
Known GenesDDX43
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609509
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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