A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675782



Internal ID9595201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10420338..10435774hg38UCSC Ensembl
chr12:10572937..10588373hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3815437
hg1915437
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv263e199
Supporting Variantsessv6127248, essv5681458, essv5689377, essv6340944
SamplesHG01060, HG01069, HG00325, NA18941
Known GenesKLRC2, KLRC3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675782
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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