A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646224



Internal ID7032969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:58585504..58586565hg38UCSC Ensembl
Innerchr20:58585525..58586544hg38UCSC Ensembl
Outerchr20:58585483..58586586hg38UCSC Ensembl
chr20:57160560..57161621hg19UCSC Ensembl
Innerchr20:57160581..57161600hg19UCSC Ensembl
Outerchr20:57160539..57161642hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg381062
hg191062
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16218945, essv16218948, essv16218955, essv16218953, essv16218946, essv16218941, essv16218943, essv16218947, essv16218952, essv16218944, essv16218950, essv16218942, essv16218951, essv16218949, essv16218954
SamplesNA18502, HG02476, HG03172, HG03133, NA19130, HG01134, NA19238, NA18864, NA18871, HG02455, HG03461, NA19324, HG02462, HG02768, NA19346
Known GenesAPCDD1L-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646224
Frequency
Sample Size2504
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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