A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630565



Internal ID7017382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101104087..101110496hg38UCSC Ensembl
Innerchr12:101104587..101109996hg38UCSC Ensembl
Outerchr12:101103087..101111496hg38UCSC Ensembl
chr12:101497865..101504274hg19UCSC Ensembl
Innerchr12:101498365..101503774hg19UCSC Ensembl
Outerchr12:101496865..101505274hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg386410
hg196410
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14588712
SamplesNA19121
Known GenesANO4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630565
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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