A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631001



Internal ID7017815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124069559..124202732hg38UCSC Ensembl
Innerchr12:124069709..124202582hg38UCSC Ensembl
Outerchr12:124069409..124202882hg38UCSC Ensembl
chr12:124554106..124687278hg19UCSC Ensembl
Innerchr12:124554256..124687128hg19UCSC Ensembl
Outerchr12:124553956..124687428hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38133174
hg19133173
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv310e214
Supporting Variantsessv14622431, essv14622435, essv14622432, essv14622434, essv14622438, essv14622437, essv14622433, essv14622436
SamplesNA19378, NA20759, HG00266, HG02322, HG03388, HG00623, HG01357, HG01137
Known GenesZNF664-FAM101A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631001
Frequency
Sample Size2504
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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