A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618243



Internal ID7005126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:103001933..103002277hg38UCSC Ensembl
Innerchr8:103001937..103002274hg38UCSC Ensembl
Outerchr8:103001930..103002281hg38UCSC Ensembl
chr8:104014161..104014505hg19UCSC Ensembl
Innerchr8:104014165..104014502hg19UCSC Ensembl
Outerchr8:104014158..104014509hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38345
hg19345
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13271373, essv13271393, essv13271380, essv13271374, essv13271376, essv13271397, essv13271390, essv13271389, essv13271379, essv13271375, essv13271387, essv13271391, essv13271388, essv13271382, essv13271394, essv13271392, essv13271385, essv13271371, essv13271377, essv13271383, essv13271378, essv13271384, essv13271386, essv13271396, essv13271372, essv13271381, essv13271395
SamplesHG02574, NA20339, HG03559, HG01173, HG01374, HG02840, NA19404, NA19385, NA19317, HG02427, NA19239, HG03058, HG03048, HG02819, HG01073, NA19118, HG03136, HG01197, HG02309, HG02256, NA19019, HG03557, HG02771, NA19472, NA19468, NA19661, NA19030
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618243
Frequency
Sample Size2504
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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