A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615584



Internal ID7002473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:153949619..154250822hg38UCSC Ensembl
chr7:153646704..153947907hg19UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg38301204
hg19301204
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1345e214
Supporting Variantsessv13025438, essv13025445, essv13025448, essv13025443, essv13025451, essv13025439, essv13025447, essv13025442, essv13025441, essv13025450, essv13025440, essv13025437, essv13025436, essv13025444, essv13025449, essv13025435, essv13025446
SamplesHG03652, NA18528, NA19089, HG02185, NA18942, NA19056, NA18991, HG00500, NA18976, HG00479, NA18628, NA19090, NA18636, HG03401, NA18983, NA18623, HG01805
Known GenesDPP6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615584
Frequency
Sample Size2504
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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