A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630530



Internal ID6670666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99592011..99640671hg38UCSC Ensembl
Innerchr12:99592025..99640658hg38UCSC Ensembl
Outerchr12:99591998..99640685hg38UCSC Ensembl
chr12:99985789..100034449hg19UCSC Ensembl
Innerchr12:99985803..100034436hg19UCSC Ensembl
Outerchr12:99985776..100034463hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3848661
hg1948661
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14586989, essv14586987, essv14586988
SamplesNA18546, HG03583, NA19315
Known GenesANKS1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630530
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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