A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663513



Internal ID9582932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121844997..121845533hg38UCSC Ensembl
chr12:122282903..122283439hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38537
hg19537
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv322e199
Supporting Variantsessv5712922, essv5877310, essv5746581, essv6010613, essv5884945, essv6585422, essv6070097
SamplesNA19399, NA19920, NA19315, NA19130, NA20340, NA18520, NA20342
Known GenesHPD
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663513
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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