A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630995



Internal ID6671128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123628459..123712471hg38UCSC Ensembl
Innerchr12:123628609..123712321hg38UCSC Ensembl
Outerchr12:123628309..123712621hg38UCSC Ensembl
chr12:124113006..124197018hg19UCSC Ensembl
Innerchr12:124113156..124196868hg19UCSC Ensembl
Outerchr12:124112856..124197168hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3884013
hg1984013
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv309e214
Supporting Variantsessv14621971, essv14621969, essv14621973, essv14621970, essv14621972
SamplesHG02727, NA12762, HG02219, HG00623, HG01357
Known GenesATP6V0A2, EIF2B1, GTF2H3, TCTN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630995
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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