A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666679



Internal ID9932784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:14400738..14402351hg38UCSC Ensembl
Outerchr19:14400701..14402401hg38UCSC Ensembl
Innerchr19:14511550..14513163hg19UCSC Ensembl
Outerchr19:14511513..14513213hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg381701
hg191701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6186293, essv5998479
SamplesHG01072, HG01174
Known GenesCD97
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666679
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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