A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618625



Internal ID7005507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:121386158..121417966hg38UCSC Ensembl
chr8:122398398..122430206hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg3831809
hg1931809
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13306403, essv13306393, essv13306401, essv13306385, essv13306384, essv13306405, essv13306371, essv13306397, essv13306389, essv13306387, essv13306382, essv13306372, essv13306380, essv13306390, essv13306376, essv13306407, essv13306388, essv13306394, essv13306378, essv13306386, essv13306374, essv13306406, essv13306402, essv13306381, essv13306373, essv13306400, essv13306395, essv13306375, essv13306383, essv13306377, essv13306391, essv13306404, essv13306392, essv13306398, essv13306396, essv13306399, essv13306379
SamplesHG02610, NA19909, HG03517, NA18881, HG03298, HG03295, NA20346, HG03372, NA19201, NA20317, NA19916, HG03370, HG02816, HG02315, HG03212, NA20340, HG01369, HG02642, NA18520, HG02882, HG02977, HG02334, NA19982, NA18910, HG03301, HG02577, HG02309, NA19257, NA19401, NA19149, HG03084, HG02938, HG02013, NA19711, HG01886, HG02629, NA19153
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618625
Frequency
Sample Size2504
Observed Gain37
Observed Loss0
Observed Complex0
Frequencyn/a


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