A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631008



Internal ID7017822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124240909..124242164hg38UCSC Ensembl
Innerchr12:124240909..124242164hg38UCSC Ensembl
Outerchr12:124240563..124242602hg38UCSC Ensembl
chr12:124725455..124726710hg19UCSC Ensembl
Innerchr12:124725455..124726710hg19UCSC Ensembl
Outerchr12:124725109..124727148hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381256
hg191256
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14622636, essv14622656, essv14622654, essv14622604, essv14622607, essv14622615, essv14622625, essv14622614, essv14622634, essv14622626, essv14622620, essv14622657, essv14622623, essv14622653, essv14622627, essv14622624, essv14622611, essv14622648, essv14622638, essv14622610, essv14622603, essv14622601, essv14622629, essv14622640, essv14622628, essv14622639, essv14622622, essv14622660, essv14622637, essv14622605, essv14622651, essv14622652, essv14622618, essv14622661, essv14622613, essv14622616, essv14622649, essv14622632, essv14622612, essv14622621, essv14622642, essv14622650, essv14622635, essv14622655, essv14622602, essv14622645, essv14622631, essv14622608, essv14622641, essv14622630, essv14622659, essv14622617, essv14622647, essv14622609, essv14622606, essv14622619, essv14622658, essv14622644, essv14622633, essv14622643, essv14622646
SamplesHG03514, HG02583, HG03298, HG02589, NA19190, NA18870, HG03372, HG03133, HG02054, NA20291, HG02561, NA18868, NA20340, NA20412, NA20342, HG02623, HG03343, HG02977, NA19462, HG02678, NA19114, NA18499, NA18856, HG02309, HG02283, NA19099, HG01890, HG02332, HG01988, HG02484, NA19017, HG02613, NA19440, NA19834, HG03539, HG01894, HG02314, HG02941, NA19310, HG03108, NA19376, NA19328, NA18501, HG03157, HG02107, NA19093, HG03258, NA19185, HG03351, HG02768, HG02679, HG02013, NA18876, NA19116, NA19900, NA19430, HG01464, NA18505, HG01886, HG02643, NA19346
Known GenesZNF664-FAM101A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631008
Frequency
Sample Size2504
Observed Gain0
Observed Loss61
Observed Complex0
Frequencyn/a


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