A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656708



Internal ID9922813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53681024..53682982hg38UCSC Ensembl
chr12:54074808..54076766hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381959
hg191959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5892666, essv6337321, essv6410377, essv6394867, essv6109328, essv5923980, essv6429233, essv5502713, essv5549743, essv5787785, essv6005606, essv6203134, essv5999084
SamplesNA19700, NA19819, NA19319, NA18874, NA18868, NA19371, NA19347, NA19469, NA19440, NA19256, NA19470, NA19398, NA19711
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656708
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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