A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676174



Internal ID9595593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:77308818..77315904hg38UCSC Ensembl
chr1:77774503..77781589hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg387087
hg197087
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6374048, essv6589485, essv6344353
SamplesNA18861, NA18523, NA19713
Known GenesAK5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676174
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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