A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667576



Internal ID9586995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:61971859..61986744hg38UCSC Ensembl
chr1:62437531..62452416hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3814886
hg1914886
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6519558, essv5438954, essv6590849, essv6295083
SamplesNA18861, NA19834, NA19256, NA19130
Known GenesINADL
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667576
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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