A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608989



Internal ID6649222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51938305..51944105hg38UCSC Ensembl
Innerchr6:51938305..51944105hg38UCSC Ensembl
Outerchr6:51938113..51944333hg38UCSC Ensembl
chr6:51803103..51808903hg19UCSC Ensembl
Innerchr6:51803103..51808903hg19UCSC Ensembl
Outerchr6:51802911..51809131hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg385801
hg195801
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12349521, essv12349556, essv12349548, essv12349539, essv12349540, essv12349552, essv12349537, essv12349541, essv12349574, essv12349533, essv12349578, essv12349522, essv12349580, essv12349584, essv12349546, essv12349568, essv12349581, essv12349547, essv12349526, essv12349579, essv12349554, essv12349560, essv12349563, essv12349531, essv12349558, essv12349569, essv12349538, essv12349550, essv12349567, essv12349525, essv12349545, essv12349555, essv12349566, essv12349542, essv12349523, essv12349572, essv12349562, essv12349575, essv12349571, essv12349551, essv12349543, essv12349577, essv12349564, essv12349573, essv12349583, essv12349524, essv12349559, essv12349529, essv12349549, essv12349557, essv12349528, essv12349582, essv12349536, essv12349530, essv12349532, essv12349570, essv12349565, essv12349576, essv12349544, essv12349527, essv12349534, essv12349535, essv12349561, essv12349553
SamplesHG00323, HG00356, NA20787, NA20503, HG00145, NA11920, HG00369, NA20796, NA20535, HG00384, NA20759, NA11931, HG01615, HG01956, HG00173, HG01491, NA20786, HG01350, HG01679, HG02471, NA20539, HG02231, HG00187, NA20763, HG01101, NA20798, HG01521, NA20811, HG00372, NA19774, NA20520, NA11995, HG00276, HG00357, NA12144, NA20773, HG00306, HG00108, NA20795, HG01271, HG01486, HG01121, NA20822, HG01786, HG00132, HG01767, NA10851, NA19921, NA19794, HG00181, HG01632, HG00262, NA12003, HG00235, NA12842, NA20886, HG02256, NA20758, NA11829, HG01498, HG01791, HG01522, HG00271, HG00327
Known GenesPKHD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608989
Frequency
Sample Size2504
Observed Gain0
Observed Loss64
Observed Complex0
Frequencyn/a


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