A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677984



Internal ID9597403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:56481732..56481955hg38UCSC Ensembl
Outerchr12:56481575..56482108hg38UCSC Ensembl
Innerchr12:56875516..56875739hg19UCSC Ensembl
Outerchr12:56875359..56875892hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38534
hg19534
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5770581, essv6379396, essv6172911, essv5895959, essv5882467, essv6214902, essv5837731, essv6249215, essv6463654
SamplesNA19704, NA19443, NA19904, NA19901, NA18520, NA19391, NA18907, NA19223, NA19116
Known GenesGLS2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677984
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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