A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646119



Internal ID7032864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53628609..53630564hg38UCSC Ensembl
Innerchr20:53629109..53630064hg38UCSC Ensembl
Outerchr20:53627609..53631564hg38UCSC Ensembl
chr20:52245148..52247103hg19UCSC Ensembl
Innerchr20:52245648..52246603hg19UCSC Ensembl
Outerchr20:52244148..52248103hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg381956
hg191956
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16204604, essv16204607, essv16204599, essv16204630, essv16204606, essv16204617, essv16204634, essv16204614, essv16204620, essv16204621, essv16204611, essv16204625, essv16204613, essv16204603, essv16204622, essv16204600, essv16204598, essv16204616, essv16204624, essv16204632, essv16204612, essv16204626, essv16204633, essv16204608, essv16204629, essv16204627, essv16204610, essv16204605, essv16204618, essv16204601, essv16204609, essv16204628, essv16204623, essv16204631, essv16204619, essv16204615, essv16204602
SamplesHG03484, HG01356, HG03175, HG02318, NA19314, HG02895, NA20359, NA19201, HG02840, HG02756, HG02562, HG02642, HG03058, HG02882, HG03088, NA18516, HG03575, NA20126, HG02878, HG03472, HG03397, HG02309, HG02283, HG03571, HG02979, NA19160, HG01444, NA19321, NA19256, HG02501, HG02308, NA19439, HG03419, HG02974, HG02053, HG02013, HG03118
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646119
Frequency
Sample Size2504
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer