A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630408



Internal ID7017227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93920169..93969642hg38UCSC Ensembl
Innerchr12:93920319..93969492hg38UCSC Ensembl
Outerchr12:93920019..93969792hg38UCSC Ensembl
chr12:94313945..94363418hg19UCSC Ensembl
Innerchr12:94314095..94363268hg19UCSC Ensembl
Outerchr12:94313795..94363568hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3849474
hg1949474
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv294e214
Supporting Variantsessv14571792, essv14571795, essv14571784, essv14571793, essv14571791, essv14571785, essv14571796, essv14571788, essv14571789, essv14571797, essv14571786, essv14571787, essv14571790, essv14571794, essv14571783
SamplesHG00626, HG00403, HG03836, HG03943, HG00610, HG03986, NA19917, HG03691, HG03709, HG00266, HG03934, HG00611, HG00623, HG01357, NA20906
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630408
Frequency
Sample Size2504
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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