A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656843



Internal ID9922948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:77504295..77534657hg38UCSC Ensembl
chr1:77969980..78000342hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3830363
hg1930363
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6110761
SamplesNA19901
Known GenesAK5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656843
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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