A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665030



Internal ID9931135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:409207..409877hg38UCSC Ensembl
Outerchr12:409050..410030hg38UCSC Ensembl
Innerchr12:518373..519043hg19UCSC Ensembl
Outerchr12:518216..519196hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38981
hg19981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6474072, essv6173812, essv6000742, essv6465411, essv6254776, essv5493530, essv5810883, essv5974954, essv6291059
SamplesNA19703, NA19350, NA19383, NA18868, NA19235, NA19707, NA19236, HG01108, NA19376
Known GenesCCDC77
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665030
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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