A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628235



Internal ID7015059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:413529..414362hg38UCSC Ensembl
Innerchr12:413529..414362hg38UCSC Ensembl
Outerchr12:413089..414641hg38UCSC Ensembl
chr12:522695..523528hg19UCSC Ensembl
Innerchr12:522695..523528hg19UCSC Ensembl
Outerchr12:522255..523807hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38834
hg19834
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14329571, essv14329564, essv14329559, essv14329553, essv14329555, essv14329569, essv14329554, essv14329546, essv14329537, essv14329566, essv14329567, essv14329565, essv14329544, essv14329545, essv14329570, essv14329562, essv14329540, essv14329542, essv14329549, essv14329561, essv14329572, essv14329568, essv14329548, essv14329541, essv14329560, essv14329563, essv14329552, essv14329556, essv14329557, essv14329550, essv14329558, essv14329573, essv14329547, essv14329551, essv14329543, essv14329539, essv14329538
SamplesHG02496, NA18861, NA20321, HG02870, HG02769, NA19315, NA18489, NA20320, NA19678, HG02854, HG02645, HG02816, HG03079, HG02642, HG03394, NA19247, HG02678, HG02322, HG02470, HG02537, HG03124, HG03397, NA20282, HG03451, HG02666, HG01890, HG02613, HG02282, HG03117, NA18865, HG01205, NA19117, HG03432, HG03066, HG02768, HG02805, HG03303
Known GenesCCDC77
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628235
Frequency
Sample Size2504
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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