A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675010



Internal ID9941115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:68781069..68781123hg38UCSC Ensembl
chr12:69174849..69174903hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5496221, essv5678802, essv5710635, essv5952175, essv6354281, essv6369889, essv6201835, essv6120723, essv5961341, essv6448809, essv6232636, essv5938328, essv5806540, essv6406658, essv5612274, essv6565800, essv5629887, essv5554204, essv5571050, essv6512516, essv5673344, essv6542998
SamplesNA18502, NA18507, NA18870, NA18519, NA18489, NA18916, NA19138, NA19238, NA18520, NA19239, NA19114, NA18499, NA18853, NA19257, NA18523, NA19108, NA18517, NA19240, NA19102, NA18505, NA19129, NA18511
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675010
Frequency
Sample Size1151
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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