A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662778



Internal ID9582197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:44709446..44710343hg38UCSC Ensembl
Outerchr1:44709409..44710393hg38UCSC Ensembl
Innerchr1:45175118..45176015hg19UCSC Ensembl
Outerchr1:45175081..45176065hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38985
hg19985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6523358, essv5506749
SamplesHG00640, HG00629
Known GenesC1orf228
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662778
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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