A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629593



Internal ID7016414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56066403..56070463hg38UCSC Ensembl
Innerchr12:56066451..56070415hg38UCSC Ensembl
Outerchr12:56066355..56070511hg38UCSC Ensembl
chr12:56460187..56464247hg19UCSC Ensembl
Innerchr12:56460235..56464199hg19UCSC Ensembl
Outerchr12:56460139..56464295hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg384061
hg194061
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14486572, essv14486561, essv14486568, essv14486559, essv14486548, essv14486552, essv14486555, essv14486553, essv14486549, essv14486557, essv14486570, essv14486554, essv14486569, essv14486562, essv14486575, essv14486567, essv14486546, essv14486545, essv14486558, essv14486550, essv14486563, essv14486565, essv14486573, essv14486574, essv14486560, essv14486551, essv14486547, essv14486566, essv14486571, essv14486564, essv14486556
SamplesHG02614, HG03366, NA19222, NA18877, HG02870, HG03126, HG03193, NA18510, HG03246, HG03105, HG02505, NA19923, NA20278, HG02009, HG03343, HG03120, HG02450, HG01130, NA20282, NA19321, NA19108, HG02501, HG03458, HG02314, HG01260, HG02464, HG02317, HG03039, NA19223, HG02938, NA19129
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629593
Frequency
Sample Size2504
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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