A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585017



Internal ID6625336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1718181..1719212hg38UCSC Ensembl
Innerchr1:1718181..1719212hg38UCSC Ensembl
Outerchr1:1718150..1719391hg38UCSC Ensembl
chr1:1649620..1650651hg19UCSC Ensembl
Innerchr1:1649620..1650651hg19UCSC Ensembl
Outerchr1:1649589..1650830hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg381032
hg191032
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9841552, essv9841532, essv9841558, essv9841568, essv9841563, essv9841561, essv9841514, essv9841573, essv9841535, essv9841517, essv9841538, essv9841560, essv9841548, essv9841559, essv9841524, essv9841549, essv9841550, essv9841520, essv9841542, essv9841534, essv9841537, essv9841572, essv9841512, essv9841540, essv9841574, essv9841529, essv9841564, essv9841546, essv9841523, essv9841566, essv9841541, essv9841539, essv9841509, essv9841519, essv9841570, essv9841555, essv9841515, essv9841554, essv9841553, essv9841562, essv9841526, essv9841569, essv9841531, essv9841571, essv9841513, essv9841556, essv9841545, essv9841516, essv9841533, essv9841522, essv9841518, essv9841511, essv9841551, essv9841530, essv9841543, essv9841525, essv9841544, essv9841567, essv9841521, essv9841547, essv9841565, essv9841557, essv9841527, essv9841510, essv9841536, essv9841528
SamplesNA20508, NA18647, HG04229, HG02026, HG01188, NA20512, NA12751, NA19777, NA12750, NA19792, NA21135, HG03757, HG01064, HG03976, HG02383, HG00851, HG03803, NA20518, HG02490, HG01757, HG03696, HG02073, HG02164, HG02134, HG02047, HG01784, HG01501, NA19070, HG01122, HG02057, HG03945, NA12718, HG02728, NA18976, HG03781, HG01889, HG03967, HG03730, HG03858, HG00479, NA20581, HG01182, HG03745, HG02601, NA12144, HG04176, NA18632, HG00155, HG02282, HG04026, HG03899, NA20804, HG02837, NA20362, NA20544, HG03681, HG02558, HG02128, HG00259, HG02032, HG00310, HG02239, HG01794, HG01431, NA18957, NA18620
Known GenesCDK11A, CDK11B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585017
Frequency
Sample Size2504
Observed Gain0
Observed Loss66
Observed Complex0
Frequencyn/a


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