A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670693



Internal ID9936798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11928592..11933350hg38UCSC Ensembl
chr1:11988649..11993407hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg384759
hg194759
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5492028, essv6321813, essv5416173, essv6158937, essv6013996, essv6354380, essv6591077, essv6390169, essv5841944, essv5550755, essv6262121, essv5867042, essv5743262, essv5557663, essv6450182, essv5708107, essv5802120
SamplesNA19076, NA18582, HG00590, HG00683, NA18990, HG00419, HG00560, NA19082, HG00320, NA18948, NA18593, NA18559, HG00662, HG00329, NA18636, HG00180, NA18620
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670693
Frequency
Sample Size1151
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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