A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677539



Internal ID9943644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:66069689..66070524hg38UCSC Ensembl
chr2:66296823..66297658hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38836
hg19836
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5694101, essv5703629, essv5832889, essv6203430, essv5547178
SamplesNA18959, NA18547, HG00590, HG00683, NA18570
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677539
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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