A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645060



Internal ID6685123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:3899237..3901193hg38UCSC Ensembl
Innerchr20:3899287..3901143hg38UCSC Ensembl
Outerchr20:3899175..3901255hg38UCSC Ensembl
chr20:3879884..3881840hg19UCSC Ensembl
Innerchr20:3879934..3881790hg19UCSC Ensembl
Outerchr20:3879822..3881902hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg381957
hg191957
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16122329, essv16122293, essv16122296, essv16122315, essv16122321, essv16122314, essv16122317, essv16122323, essv16122322, essv16122326, essv16122318, essv16122309, essv16122324, essv16122295, essv16122297, essv16122313, essv16122298, essv16122312, essv16122319, essv16122294, essv16122316, essv16122325, essv16122320, essv16122301, essv16122328, essv16122327, essv16122303, essv16122311, essv16122305, essv16122299, essv16122306, essv16122300, essv16122307, essv16122310, essv16122302, essv16122308, essv16122304
SamplesHG04096, NA19794, NA20877, HG03731, HG01188, HG01456, NA19684, HG00737, NA19669, HG01177, HG03765, NA19720, HG03986, HG03777, NA18645, NA20854, HG00268, HG02165, HG01029, NA18537, HG01447, HG03829, NA20903, HG04173, NA19740, HG00864, HG03743, HG03598, HG02089, HG03809, HG03708, HG01131, HG02685, NA19783, NA20847, NA19726, HG00759
Known GenesPANK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645060
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